PYCR2Mutations cause a lethal syndrome of microcephaly and failure to thrive-Reference-Cited by-同舟云学术

PYCR2Mutations cause a lethal syndrome of microcephaly and failure to thrive

Published:2016-06-01 Issue:1 Volume:80 Page:59-70
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Zaki Maha S.¹,Bhat Gifty²³,Sultan Tipu⁴,Issa Mahmoud¹,Jung Hea-Jin²,Dikoglu Esra²,Selim Laila⁵,G. Mahmoud Imam⁵,Abdel-Hamid Mohamed S.⁶,Abdel-Salam Ghada¹,Marin-Valencia Isaac²,Gleeson Joseph G.²

Affiliation:

1. Human Genetics and Genome Research Division, Clinical Genetics Department; National Research Center; Cairo Egypt

2. Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute; Rockefeller University; New York NY

3. Division of Pediatric Genetics; Children's Hospital at Montefiore; Bronx NY

4. Pediatric Neurology, Institute of Child Health; Children Hospital; Lahore Pakistan

5. Cairo University Children's Hospital, Division of Neurology and Metabolic Disease; Cairo Egypt

6. Department of Medical Molecular Genetics, Human Genetics and Genome Research Division; National Research Center; Cairo Egypt

Funder

NIH

Yale Center for Mendelian Disorders

Gregory M. Kiez and Mehmet Kutman Foundation

Simons Foundation

Qatar National Research Fund

Leona M. and Harry B. Helmsley Charitable Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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5. The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2;Yildirim;Am J Med Genet A,2011

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