Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292725" target="_blank" >RIV/00064203:_____/14:10292725 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10292725
Result on the web
<a href="http://dx.doi.org/10.1002/ajmg.a.36404" target="_blank" >http://dx.doi.org/10.1002/ajmg.a.36404</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ajmg.a.36404" target="_blank" >10.1002/ajmg.a.36404</a>
Alternative languages
Result language
angličtina
Original language name
Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair
Original language description
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. This condition is characterized by facial features similar to Noonan syndrome, reduced growth,cardiac defects, and typical abnormal hair. We report on a patient with molecularly confirmed NS/LAH with coarctation of the aorta. The girl was precipitously born at 37 weeks of gestation at home and required a 3-min resuscitation. Increased nuchal translucency and aortic coarctation with a small ventricular septal defect were described prenatally, hypertrophic cardiomyopathy was detected postnatally. The patient presented with facial dysmorphism typical of NS with redundant skin over the nape and on the back. Short stature, relative macrocephaly, failure-to-thrive together with dystrophic appearance, developmental delay mainly in motor milestones and very thin, sparse, slow-growing hair occurred a few weeks after birth. Endocrine eval
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Medical Genetics, Part A
ISSN
1552-4825
e-ISSN
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Volume of the periodical
164
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
4
Pages from-to
1218-1221
UT code for WoS article
000334290300021
EID of the result in the Scopus database
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