June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
5 citations
,
June 2014 in “Der Hautarzt” Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
7 citations
,
May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
19 citations
,
October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” The research found that genetic factors for male pattern baldness in African men differ significantly from those in Europeans.
2 citations
,
January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
June 2006 in “Experimental Dermatology” Understanding skin patterns can help us learn about skin diseases and their treatments.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
1 citations
,
September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A gene mutations cause short anagen hair syndrome.
1 citations
,
September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Researchers created an efficient method to extract DNA from marmoset hair, reducing blood chimerism.
43 citations
,
April 1996 in “Journal of Investigative Dermatology” January 2022 in “Clinical Cases in Dermatology” A 4-year-old boy has a rare type of hair loss in a line pattern on his scalp.
May 2024 in “JCI insight” A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
47 citations
,
June 1994 in “Experimental Cell Research” mHa2 and mHa3 keratins have different structures and roles in mouse hair and tongue tissues.
272 citations
,
September 2001 in “Journal of Biological Chemistry” Human hair keratins were cataloged, showing their roles in hair differentiation stages.
January 2026 in “International Journal of Molecular Sciences” Eyebrow follicles are best for accurate genetic testing after stem cell transplants.
January 2007 in “Yearbook of Dermatology and Dermatologic Surgery” Certain types of alopecia areata are linked to allergies, autoimmune diseases, and family history.
22 citations
,
January 2020 in “PeerJ” Keratin peptides in hair might help identify gender and ethnicity.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
28 citations
,
September 2013 in “Biogerontology” 43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.