Results 111 to 120 of about 4,625 (171)

Autosomal recessive hereditary hypotrichosis simplex: A case report. [PDF]

JAAD Case Rep
Shaheen EA, Samarkandy SJ, Abbas RA, Alturkistani RF, Aman AA.   +4 more
europepmc   +1 more source

Case Report: A case of Rothmund-Thomson syndrome-like phenotype with an <i>ANAPC1</i> variant of uncertain significance and observed hair improvement. [PDF]

Front Med (Lausanne)
Huang C, Liu Q, Yang D.
europepmc   +1 more source

Peri-implant Femoral Fracture: An Uncommon Presentation in a Patient with Hallermann-Streiff Syndrome - A Case Report and Review of the Literature. [PDF]

J Orthop Case Rep
Ramírez LMR, Davila EV.
europepmc   +1 more source

Effectiveness of expanded prenatal screening among consanguineous couples of Afghan descent. [PDF]

AJOG Glob Rep
Osman N, Rhee L, Boe N, Hedriana H, Singh K.   +4 more
europepmc   +1 more source

[Congenital alopecia and hypotrichosis].

Vestnik dermatologii i venerologii, 1978
I M, Khalilov, A A, Avanesov, K D, Ganiev   +2 more
openaire   +1 more source

Autosomal Recessive Woolly Hair Caused by <i>LIPH</i> Mutations: A Case Series of Six Chinese Patients. [PDF]

Clin Cosmet Investig Dermatol
Cui C, Chen X, Zhang YZ, Ni JY, Ma JY, Wei AH.   +5 more
europepmc   +1 more source

Leukonychia and peeling skin in an 11-year-old girl. [PDF]

JAAD Case Rep
Alharbi Z, Alshomer S, Alghamdi F, Alkhenaizan A, AlBalwi M, Bashihab R, Al-Khenaizan S.   +6 more
europepmc   +1 more source

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia. [PDF]

Orphanet J Rare Dis
Kovalskaia VA, Cherevatova TB, Zinina EV, Shagina OA, Vorontsova EO, Matyushchenko GN, Demina NA, Petukhova MP, Markova TV, Guseva DM, Galkina VA, Anisimova IV, Stepanova AA, Chuhrova AL, Sharova MV, Bostanova FM, Voskanyan AE, Polyakov AV, Ryzhkova OP.   +18 more
europepmc   +1 more source

Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family. [PDF]

J Cosmet Dermatol
Yang L, Li S, Yao M, Jiang S, Cheng F, Jia X.   +5 more
europepmc   +1 more source