January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
May 2012 in “Research and reports in neonatology” This article presents a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities, but reports no new findings beyond this case description.
4 citations
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
44 citations
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May 1998 in “PubMed” In this study, a specific retinoic acid receptor antagonist caused severe craniofacial anomalies in mouse fetuses when administered early in pregnancy, but not limb anomalies, highlighting developmental stage-specific roles of retinoic acid.
32 citations
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February 2008 in “Developmental dynamics” This study indicates that the Sp6 gene is crucial for the development of skin, teeth, limbs, and lungs in mice, possibly through regulating apoptosis.
8 citations
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October 2022 in “Journal of Mind and Medical Sciences” This review discusses the causes and preventive measures of limb amputations, emphasizing the importance of specialized surgical teams to improve function and aesthetics, but provides no new clinical findings.
724 citations
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April 2004 in “Lancet Oncology” This review summarizes the use and neonatal outcomes of chemotherapy during pregnancy, noting its potential for safe use in the second and third trimesters, and reports no new clinical results.
53 citations
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October 1993 in “Drug Safety” Oral retinoids can cause side effects ranging from mild to severe, including birth defects, and require careful monitoring and contraception.
6 citations
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July 2007 in “Developmental Dynamics” This study reports that Wise is expressed in specific patterns during the morphogenesis of chick embryos, particularly in regions associated with known signaling molecules like Wnt, Bmp, and Shh.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
March 2017 in “Fundamental & Clinical Pharmacology” This case study reported an improvement in lower limb edema for a patient with type 2 diabetes mellitus after starting dulaglutide treatment, suggesting a potential role of the drug in sodium retention disorders.
16 citations
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July 2019 in “Journal of Cellular Biochemistry” This review discusses the varied roles of Wnt7a in development, tissue homeostasis, and cancer, reporting no clinical results; the authors emphasize the need for further investigation on its roles in inflammation and fibrosis.
18 citations
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December 2006 in “Clinical dysmorphology” This article reviews the case of a 2-year-old boy with rhombencephalosynapsis and considers its potential links to Gomez–López-Hernández syndrome, suggesting further research into its genetic causes; no new clinical results are reported.
7 citations
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May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
25 citations
,
May 2016 in “Progress in Biophysics & Molecular Biology” This article reviews the role of R-spondins and their receptors in bone development and metabolism, highlighting their potential modulatory effects and clinical implications for treating bone loss diseases, but reports no new clinical results.
31 citations
,
January 2014 in “Journal of endocrinological investigation” This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.
September 2005 in “Clinics in Plastic Surgery” This article discusses multiple aspects of complex regional pain syndrome, including its diagnosis, pathogenesis, and treatment, but reports no new scientific findings.
January 1998 in “Lasers in Surgery and Medicine” This study found that both 5-ALA and Photofrin can effectively destroy human microvascular endothelial cells in vitro and cause tissue necrosis in vivo, with Photofrin showing greater efficacy at lower concentrations or power densities.
15 citations
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February 2015 in “Cell & tissue research/Cell and tissue research” This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.
July 2023 in “Journal of allergy and clinical Immunology. Global” This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.
July 2008 in “Planta Medica” This study found that Acanthus montanus leaves' aqueous extract is a developmental toxicant in rats, leading to several adverse effects on offspring when used during pregnancy.
February 2023 in “Indian journal of private psychiatry/Indian Journal of Private Psychiatry” This case report highlights a rare instance of fingernail and toenail hyperpigmentation following the use of valproic acid, which resolved after discontinuation of the drug.
69 citations
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September 1991 in “Journal of Surgical Research” This review highlights the unique scarless wound healing abilities of fetuses and discusses potential applications to adult wound healing, reporting no new experimental findings.
10 citations
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January 2011 in “Case reports in dermatological medicine” This report documented a successful and sustained hair restoration surgery using follicular unit transplantation for temporal triangular alopecia, lasting over six years.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.