Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay-Reference-Cited by-同舟云学术

Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay

Author:

Orenstein N.¹²,Weiss K.³,Oprescu S.N.⁴,Shapira R.²,Kidron D.²⁵,Vanagaite-Basel L.¹²⁶⁷,Antonellis A.⁴,Muenke M.³

Affiliation:

1. Department of Pediatric Genetics; Schneider Children Medical Center of Israel; Petah Tikva Israel

2. Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

3. Medical Genetics Branch, National Human Genome Research Institute; National Institutes of Health; Bethesda MD USA

4. Department of Human Genetics; University of Michigan Medical School; Ann Arbor MI USA

5. Department of Pathology; Meir Hospital; Kfar Saba Israel

6. Raphael Recanati Genetics Institute; Rabin Medical Center; Petah Tikva Israel

7. Felsenstein Medical Research Center; Rabin Medical Center; Petah Tikvay Israel

Funder

National Institute of General Medical Sciences

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference13 articles.

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