MardiniâNyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sibâIs there a distinct recessive syndrome?-Reference-Cited by-同舟云学术

MardiniâNyhan association (lung agenesis, congenital heart, and thumb anomalies): Three new cases and possible recurrence in a sibâIs there a distinct recessive syndrome?

Published:2009-12 Issue:12 Volume:149A Page:2838-2842
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hastings Rob,Harding David,Donaldson Alan,Liebling Rachel,Hayes Alison,Kraus Alison,Joss Shelagh,Narayanaswamy Shuba,Turnpenny Peter,Smithson Sarah

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33124/fullpdf

Reference17 articles.

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2. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, MatthewâWood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance;Chitayat;Am J Med Genet,2007

3. Pulmonary agenesis: Expansion of the VCFS phenotype;Conway;Am J Med Genet,2002

4. Pulmonary agenesis: A predictor of ipsilateral malformations;Cunningham;Am J Med Genet,1997

5. An interesting case presentation: Pulmonary malformation associated with oculo-auriculo-vertebral dysplasia;Downing;J Perinatol,1991

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