Results 81 to 90 of about 5,312 (215)

Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats [PDF]

, 2005
Hisham Bazzi, Amalia Martı́nez-Mir, Ana Kljuic, Angela M. Christiano   +3 more
openalex   +1 more source

Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy [PDF]

, 2010
Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Angela M. Christiano   +3 more
openalex   +1 more source

Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient

Frontiers in Medicine
Woolly hair (WH) is a hair shaft anomaly characterized by tightly curled hair that typically stops growing at a few inches. Autosomal recessive WH (ARWH; OMIM no.
Satoko Minakawa, Satoko Minakawa, Yasushi Matsuzaki, Toshihide Higashino, Tamio Suzuki, Hirofumi Tomita, Eijiro Akasaka, Daisuke Sawamura   +7 more
doaj   +1 more source

Olmsted syndrome

Indian Journal of Dermatology, 2008
Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we
Kumar Pramod, Sharma P, Kar H
doaj  

The hairless (hr) gene is involved in the congenital hypotrichosis of Valle del Belice sheep [PDF]

, 2003
R. Finocchiaro, Baldassare Portolano, Giuseppe Damiani, Anna Caroli, E. Budelli, P. Bolla, G. Pagnacco   +6 more
openalex   +1 more source

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [PDF]

, 2020
INSERM
openalex   +1 more source

Olmsted syndrome with hypotrichosis.

Indian journal of dermatology, venereology and leprology, 2012
Olmsted syndrome is characterised by mutilating palmoplantar keratoderma with peri-orificial hyperkeratosis. We report the case of an 8-year old boy who presented with severe keratoderma of the soles since birth and of the palms from the age of 3 years. At 3 years of age hyperkeratotic plaques appeared on the elbows and knees.
D, Dogra, J S, Ravindraprasad, N, Khanna, R K, Pandhi   +3 more
openaire   +1 more source

A Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Alternation in Severity: Deterioration and Improvement with Age [PDF]

, 2013
Naoko Matsuno, Makoto Kunisada, H. Kanki, Yutaka Simomura, Chikako Nishigori   +4 more
openalex   +1 more source

A case of LSS‐associated congenital nuclear cataract with hypotrichosis and literature review [PDF]

, 2023
Dongwei Guo, Qingjiong Zhang
openalex   +1 more source

In Vitro Analysis of LIPH Mutations Causing Hypotrichosis Simplex: Evidence Confirming the Role of Lipase H and Lysophosphatidic Acid in Hair Growth [PDF]

, 2009
Sandra M. Pasternack, Ivar von Kügelgen, Melanie Müller, Vinzenz Oji, Heiko Traupe, Eli Sprecher, Markus M. Nöthen, Andreas Janecke, Regina C. Betz   +8 more
openalex   +1 more source