Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree-Reference-Cited by-同舟云学术

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Published:2016-07-16 Issue:1 Volume:10 Page:
ISSN:1479-7364
Container-title:Human Genomics
language:en
Short-container-title:Hum Genomics

Author:

Makrythanasis Periklis,Guipponi Michel,Santoni Federico A.,Zaki Maha,Issa Mahmoud Y.,Ansar Muhammad,Hamamy Hanan,Antonarakis Stylianos E.

Funder

Gebert Rüf Stiftung (DE)

von Meissner

Bodossaki Foundation

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40246-016-0082-2

Reference44 articles.

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3. Sheridan E, et al. Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study. Lancet. 2013;382(9901):1350–9.

4. Stoll C, et al. Parental consanguinity as a cause for increased incidence of births defects in a study of 238,942 consecutive births. Ann Genet. 1999;42(3):133–9.

5. Stoltenberg C, et al. Consanguinity and recurrence risk of birth defects: a population-based study. Am J Med Genet. 1999;82(5):423–8.

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