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Document type:
journal article
Author(s):
Reza Sailani, M; Jahanbani, Fereshteh; Nasiri, Jafar; Behnam, Mahdiyeh; Salehi, Mansoor; Sedghi, Maryam; Hoseinzadeh, Majid; Takahashi, Shinichi; Zia, Amin; Gruber, Joshua; Lynch, Janet Linnea; Lam, Daniel; Winkelmann, Juliane; Amirkiai, Semira; Pang, Baoxu; Rego, Shannon; Mazroui, Safoura; Bernstein, Jonathan A; Snyder, Michael P
Title:
Association of AHSG with alopecia and mental retardation (APMR) syndrome.
Abstract:
Alopecia with mental retardation syndrome (APMR) is a very rare autosomal recessive condition that is associated with total or partial absence of hair from the scalp and other parts of the body as well as variable intellectual disability. Here we present whole-exome sequencing results of a large consanguineous family segregating APMR syndrome with seven affected family members. Our study revealed a novel predicted pathogenic, homozygous missense mutation in the AHSG (OMIM 138680) gene (AHSG: NM_...     »
Journal title abbreviation:
Hum Genet
Year:
2017
Journal volume:
136
Journal issue:
3
Pages contribution:
287-296
Language:
eng
Fulltext / DOI:
doi:10.1007/s00439-016-1756-5
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/28054173
Print-ISSN:
0340-6717
TUM Institution:
Neurologische Klinik und Poliklinik
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