Comment on “Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome”-Reference-Cited by-同舟云学术

Comment on “Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome”

Published:2017-10 Issue:10 Volume:37 Page:1055-1056
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Fauth Christine¹^ORCID,Toutain Annick²

Affiliation:

1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology; Medical University of Innsbruck; Innsbruck Austria

2. Department of Genetics; Tours University Hospital; Tours France

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference7 articles.

1. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome;Kehrer;Prenat Diagn,2016

2. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2;Fauth;Am J Med Genet,2016

3. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis;Terespolsky;Am J Med Genet,1995

4. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome;Brzustowicz;Am J Hum Genet,1999

5. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type 1 syndrome;Budny;Hum Genet,2006

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