Results 111 to 120 of about 5,312 (215)

Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations*

, 2020
Alexandros Onoufriadis, Alicia Cabezas, Joseph Ng, José Canales, M. Costas, João Meireles Ribeiro, Joaquim Rui Rodrigues, Maeve A. McAleer, Leslie Castelo‐Soccio, Michael A. Simpson, Franca Fraternali, Alan D. Irvine, José Carlos Cameselle, John A. McGrath   +13 more
openalex   +1 more source

‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations [PDF]

, 2019
Svetlana Vakkilainen, Alice Costantini, Mervi Taskinen, Ulla Wartiovaara‐Kautto, Outi Mäkitie   +4 more
openalex   +1 more source

Case Report: Compound heterozygous variants in <i>LSS</i> and <i>TSPEAR</i> genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14. [PDF]

Front Med (Lausanne)
Xu Y, Yang D, Xie Y, Liu Q, Lv S, Du M, Wang L.   +6 more
europepmc   +1 more source

Correction: Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report [PDF]

Giovanna Carnovale-Scalzo, Adriano Carnevali, Gabriele Piccoli, Domenico Ceravolo, Donatella Bruzzichessi, Rodolfo Iuliano, Rossana Tallerico, Valentina Gatti, Giuseppe Giannaccare, Vincenzo Scorcia   +9 more
openalex   +1 more source

Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases. [PDF]

Cell Tissue Res
Li Z, Wang S, Blaydon DC, Kelsell DP.
europepmc   +1 more source

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature. [PDF]

J Med Case Rep
Ahmadkhani A, Taherifard E, Zoghi S, Jafari Khamirani H, Ahmadkhani M, Dastgheib SA.   +5 more
europepmc   +1 more source

Genetic mapping of autosomal recessive hypotrichosis locus (LAH3), to chromosome 13q14.11-q21.32, in a family from Balochistan

, 2017
Mehwish Durrani
openalex   +1 more source

Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy [PDF]

, 2016
Sarah Hull, Gavin Arno, Anthony G. Robson, Suzanne Broadgate, Vincent Plagnol, Martin McKibbin, Stephanie Halford, Michel Michaelides, Graham E. Holder, Anthony T. Moore, Kamron N. Khan, Andrew R. Webster   +11 more
openalex   +1 more source

Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population. [PDF]

Skin Health Dis
Somani V, Somani A, Annabathula A.
europepmc   +1 more source

Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis. [PDF]

Front Med (Lausanne)
Xie Y, Luo S, Yang Y, Zou X, Lv S, Du M, Xu Y, Song X, Qi C, Li N, Yang D.   +10 more
europepmc   +1 more source