Association of AHSG with alopecia and mental retardation (APMR) syndrome
Association of AHSG with alopecia and mental retardation (APMR) syndrome
About this item
Full title
Author / Creator
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. and Snyder, Michael P.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Association of AHSG with alopecia and mental retardation (APMR) syndrome
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1877833550
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1877833550
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-016-1756-5
