Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A -associated Cornelia de Lange syndrome-Reference-Cited by-同舟云学术

Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A -associated Cornelia de Lange syndrome

Published:2016-11-07 Issue:2 Volume:173 Page:414-420
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wenger Tara L.¹,Chow Penny²,Randle Stephanie C.³,Rosen Anna¹,Birgfeld Craig¹,Wrede Joanna³⁴,Javid Patrick⁵,King Darcy¹⁶,Manh Vivian⁷,Hing Anne V.¹,Albers Erin⁸

Affiliation:

1. Division of Craniofacial Medicine; Seattle Children's Hospital; Seattle Washington

2. Division of Genetics; Seattle Children's Hospital; Seattle Washington

3. Division of Neurology; Seattle Children's Hospital; Seattle Washington

4. Division of Pulmonary and Sleep Medicine; Seattle Children's Hospital; Seattle Washington

5. Division of Pediatric General and Thoracic Surgery; Seattle Children's Hospital; Seattle Washington

6. Division of Neurodevelopmental Disabilities; Seattle Children's Hospital; Seattle Washington

7. Division of Ophthalmology; Seattle Children's Hospital; Seattle Washington

8. Division of Cardiology; Seattle Children's Hospital; Seattle Washington

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38030/fullpdf

Reference44 articles.

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2. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation;Battaglia;Pediatr,2008

3. A neonatal case of left ventricular noncompaction associated with trisomy 18;Beken;Genet Couns,2011

4. Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals;Bleyl;Am J Med Genet,1997

5. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations;Borck;Hum Mutat,2007

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