Results 111 to 120 of about 5,635 (205)

<i>CDH3</i> Retinopathy: Long-Term Multimodal Follow-Up with Pediatric Multidisciplinary Insights. [PDF]

J Clin Med
Marziali E, Elia C, Bargiacchi S, Mancano G, Artuso R, Dirupo E, Tiberi L, Daniotti M, Pochiero F, Filippeschi C, Oranges T, D'Esposito F, Angileri S, Fortunato P, Caputo R, Bacci GM.   +15 more
europepmc   +1 more source

ADAM17 variant causes hair loss via ubiquitin ligase TRIM47–mediated degradation

JCI Insight
Hypotrichosis is a genetic disorder characterized by a diffuse and progressive loss of scalp and/or body hair. Nonetheless, the causative genes for several affected individuals remain elusive, and the underlying mechanisms have yet to be fully elucidated.
Xiaoxiao Wang, Chaolan Pan, Luyao Zheng, Jianbo Wang, Quan Zou, Peiyi Sun, Kaili Zhou, Anqi Zhao, Qiaoyu Cao, Wei He, Yumeng Wang, Ruhong Cheng, Zhirong Yao, Si Zhang, Hui Zhang, Ming Li   +15 more
doaj   +1 more source

Expanding the phenotypic spectrum of ILNEB: Absence of classic dermatologic findings in a 12-year-old girl with homozygous ITGA3 p.Arg274Gln. [PDF]

JAAD Case Rep
Bashihab R, Alsuhibani AS, Alsuhaymi AM, Alosaimi MA.   +3 more
europepmc   +1 more source

The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep

, 2002
Introduction: Congenital hypotrichosis in mammalian species consists of partial or complete absence of hair coat at birth. The hairless (hr) gene is often responsible for this disorder. The gene is highly conserved between man, mouse and rat.
Damiani, G., Budelli, E., Pagnacco, P., Bolla, P., Finocchiaro, R., Caroli, A., Portolano, Baldassare   +6 more
core  

CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy. [PDF]

Cureus
Danish E, Alsulami R, Baeshen H.
europepmc   +1 more source

Inherited Disorders and Disease-Resistance Genomics in Kazakhstan Ruminants: Evidence, Limits and Breeding Priorities. [PDF]

Int J Mol Sci
Mussayeva A, Malmakov N, Aringaziev B, Omashev K, Bakhtybekkyzy S, Bekitayeva A, Samarina L.   +6 more
europepmc   +1 more source

Linear and Unilateral Basaloid Follicular Hamartoma Along Blaschko's Lines in an Elderly Patient: A Rare Presentation. [PDF]

Indian J Dermatol
Mishra P, Sahoo S, Hota SK, Mohanty L, Dash S, Senapati A.   +5 more
europepmc   +1 more source

ST14 syndromic epidermal differentiation disorder: A case report of a homozygous recessive variant with photosensitivity. [PDF]

JAAD Case Rep
Elhofy N, Almukhaimar SK, Alyaseen SY, Aldandan AW, Al-Mulhem MA.   +4 more
europepmc   +1 more source

Finger (phalangeal) hair as a donor source for eyebrow restoration. [PDF]

JAAD Case Rep
Carandell AD, Alavi N, Nivard M, Mignone M, Argueta R.   +4 more
europepmc   +1 more source

Hallermann-Streiff syndrome: A systematic review of the published literature. [PDF]

J Oral Biol Craniofac Res
Abbas R, Krishna R, Garg A.
europepmc   +1 more source