April 2023 in “Curēus” The document concludes that the girl's hairlessness is likely inherited from her parents.
April 2024 in “Curēus” Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
23 citations
,
April 2014 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
13 citations
,
February 2010 in “Journal of Dermatological Science” A gene mutation causes woolly hair in a Syrian patient.
9 citations
,
July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
43 citations
,
January 2014 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
9 citations
,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
January 2017 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.
81 citations
,
October 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
11 citations
,
January 2015 in “Dermatology” The conclusion suggests a new way to classify bradykinin-mediated angio-oedema based on different causes and its possible link with urticaria, which could improve diagnosis and treatment.
5 citations
,
February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
5 citations
,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
3 citations
,
September 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
32 citations
,
August 1999 in “Journal of Investigative Dermatology” Early onset hair loss linked to genetics and androgen levels.
103 citations
,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
1 citations
,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
March 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
8 citations
,
October 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
194 citations
,
November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.