Malformations among 289,365 Births Attributed to Mutations with Autosomal Dominant and Recessive and X-Linked Inheritance-Reference-Cited by-同舟云学术

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Malformations among 289,365 Births Attributed to Mutations with Autosomal Dominant and Recessive and X-Linked Inheritance

Published:2018-01 Issue:2 Volume:110 Page:92-97
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Toufaily M. Hassan¹²^ORCID,Westgate Marie-Noel¹²,Nasri Hanah¹²,Holmes Lewis B.¹²³^ORCID

Affiliation:

1. Department of Pediatric Newborn Medicine; Brigham and Women's Hospital; Boston

2. Medical Genetics Unit; MassGeneral Hospital for Children; Boston

3. Department of Pediatrics; Harvard Medical School; Boston Massachusetts

Funder

Birth Defects Registry of the Massachusetts Department of Public Health

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology, and Child Health

Reference30 articles.

1. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an outline catalog of human genes and genetic disorders;Amberger;Nucleic Acids Research,2015

2. Etiologic complexities of diaphragmatic defects: right diaphragmatic hernia, pulmonary hypoplasia/agenesis and hydrocephalus in sibs;Bieber;Am J Med Genet,1991

3. Etiology and clinical presentation of birth defects: population based study;Feldkamp;BMJ,2017

4. Large-scale discovery of novel genetic causes of developmental disorders;Fitzgerald;Nature,2015

5. X-linked phenotype with absent radius and anogenital anomalies;Gibson;Am J Med Genet,1993

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