Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2 ) in patients with progressive microcephaly and hypomyelinating leukodystrophy-Reference-Cited by-同舟云学术

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2 ) in patients with progressive microcephaly and hypomyelinating leukodystrophy

Published:2016-11-11 Issue:2 Volume:173 Page:460-470
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Meng Linyan¹²,Donti Taraka¹,Xia Fan¹²,Niu Zhiyv¹,Al Shamsi Aisha³,Hertecant Jozef³⁴,Al-Jasmi Fatma³⁴,Gibson James B.⁵,Nagakura Honey⁵,Zhang Jing²,He Weimin²,Eng Christine¹²,Yang Yaping¹²,Elsea Sarah H.¹²

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Baylor Genetics; Houston Texas

3. Tawam Hospital; Al Ain United Arab Emirates

4. Department of Pediatrics, College of Medicine and Heath Sciences; United Arab Emirates University; Al Ain United Arab Emirates

5. Specially for Children; Austin Texas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38049/fullpdf

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