Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.

This review summarizes current understanding and genetic insights into androgenetic alopecia, female pattern hair loss, and alopecia areata, noting the potential future role of molecular diagnostics, but it reports no new clinical results.

This study identified specific genetic variations associated with polycystic ovarian syndrome in Karnataka, which may help improve diagnosis and treatment.

This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.

This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.

This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.

This case report concluded that undiagnosed Menkes disease, an X-linked disorder causing copper deficiency, contributed to a 7-month-old's illness and death, complicating his presentation with viral septic shock and methamphetamine exposure.

This source reports findings from a case study detailing hair loss in two female patients, published in the JDDG: Journal der Deutschen Dermatologischen Gesellschaft, emphasizing that specific diagnostic outcomes or treatment results are not included in the summary.

This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.

This study found that a young male Maine Coon cat with a tortoiseshell coat, which typically indicates unusual sex chromosomes, was fertile, carrying both XX and XY cell lines. The researchers recommend genetic testing for tri-colored male cats before breeding decisions.

This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.

This review discusses recent research on male infertility causes and treatments, emphasizing the need for further understanding of idiopathic sperm abnormalities and molecular factors to improve patient outcomes; it reports no new clinical results.

This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.

This review synthesizes knowledge on HTRA1-associated disorders, highlighting how mutations in the HTRA1 gene are linked to cerebral small vessel disease and systemic conditions, and discusses emerging diagnostic and therapeutic strategies aimed at precision medicine.

This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.

In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.

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.

This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.

This article discusses the challenges in diagnosing non-classical congenital adrenal hyperplasia and emphasizes personalized treatment approaches, reporting no new clinical results.

This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

This review discusses the limitations of animal models, particularly mice, in accurately predicting human skin wound healing outcomes and emphasizes understanding species-specific differences in skin characteristics for better translation to clinical settings.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This study highlights the importance of recognizing non-nutritional forms of rickets, which can manifest with subtle symptoms like alopecia and cataracts, and emphasizes that a comprehensive diagnostic approach, including genetic testing, can improve management and treatment outcomes.

This study suggests that the TNF-α system may contribute to hyperandrogenism, obesity, and insulin resistance in polycystic ovarian syndrome, independent of the C850T polymorphism.

This case report describes a rare co-existence of Becker nevus and plexiform neurofibroma in a child with genetically confirmed neurofibromatosis type 1, offering insights into the potential cellular and molecular links between these lesions.

This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.