Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10334902" target="_blank" >RIV/00216208:11110/17:10334902 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/17:10334902

Result on the web

<a href="http://dx.doi.org/10.1111/cga.12194" target="_blank" >http://dx.doi.org/10.1111/cga.12194</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/cga.12194" target="_blank" >10.1111/cga.12194</a>

Result language

angličtina

Original language name

Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency

Original language description

Transmembrane protein 70 (TMEM70) deficiency has been delineated as a distinct mitochondrial disease less than a decade ago. Hallmarks of the disease include hypotonia, developmental delay, hypertrophic cardiomyopathy, facial dysmorphism, microcephaly, hypospadia, lactic acidosis and 3-methylglutaconic aciduria. Congenital diaphragmatic hernia (CDH) has been described only in one patient with this disease, so far. We report herein the second case of unique association of TMEM70 deficiency and CDH.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30209 - Paediatrics

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Congenital Anomalies

ISSN

0914-3505

e-ISSN

—

Volume of the periodical

57

Issue of the periodical within the volume

2

Country of publishing house

JP - JAPAN

Number of pages

2

Pages from-to

64-65

UT code for WoS article

000399949300006

EID of the result in the Scopus database

2-s2.0-85014608821