Prenatal diagnosis of familial 17q11.2 duplication encompassing NF1 in a pregnancy associated with asymptomatic carrier parent-Reference-Cited by-同舟云学术

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Prenatal diagnosis of familial 17q11.2 duplication encompassing NF1 in a pregnancy associated with asymptomatic carrier parent

Published:2024-05 Issue:3 Volume:63 Page:426-427
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Chen Chih-Ping

Funder

National Science and Technology Council

Publisher

Elsevier BV

Reference6 articles.

1. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases;Lu;PLoS One,2007

2. NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?;Grisart;Eur J Hum Genet,2008

3. NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype;Moles;Genet Med,2012

4. Pulmonary stenosis, café-au-lait spots, and dull intelligence;Watson;Arch Dis Child,1967

5. Pulmonary stenosis, cafe au lait spots and dull intelligence: the Watson syndrome revisited;Partington;(Abstract) Proc Greenwood Genet Center,1985

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