SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

DSpace Repository

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Author: Buchert, Rebecca; Nesbitt, Addie I.; Tawamie, Hasan; Krantz, Ian D.; Medne, Livija; Helbig, Ingo; Matalon, Dena R.; Reis, Andre; Santani, Avni; Sticht, Heinrich; Abou Jamra, Rami
Tübinger Autor(en):
Buchert, Rebecca
Published in: Orphanet Journal of Rare Diseases (2016), Bd. 11, Article 130
Verlagsangabe: Biomed Central Ltd
Language: English
Full text: http://dx.doi.org/10.1186/s13023-016-0509-9
ISSN: 1750-1172
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
Show full item record

This item appears in the following Collection(s)