Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaicPIK3CAmutation in cultured amniocytes-Reference-Cited by-同舟云学术

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaicPIK3CAmutation in cultured amniocytes

Published:2014-07-14 Issue:10 Volume:164 Page:2633-2637
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Emrick Lisa T.¹²,Murphy Lauren¹,Shamshirsaz Alireza A.³⁴,Ruano Rodrigo³⁴,Cassady Christopher I.⁴⁵,Liu Liu¹,Chang Fengqi¹,Sutton V. Reid¹,Li Marilyn¹,Van den Veyver Ignatia B.¹³⁴

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas, USA

2. Division of Pediatric Neurology and Developmental Neuroscience; Department of Pediatrics, Baylor College of Medicine; Houston Texas, USA

3. Department of Obstetrics and Gynecology; Baylor College of Medicine; Houston Texas, USA

4. Texas Children's Fetal Center; Texas Children's Hospital; Houston Texas, USA

5. Edward B. Singleton Department of Pediatric Radiology; Baylor College of Medicine; Houston Texas, USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36672/fullpdf

Reference15 articles.

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2. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia;Grzeschik;Nat Genet,2007

3. Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder;Gucev;Am J Med Genet Part A,2008

4. Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation;Iacobas;Pediatr Blood Cancer,2011

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