Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.

Authors :: Danarti R
Grzeschik KH
Radiono S
König A
Happle R
Source :: European journal of dermatology : EJD [Eur J Dermatol] 2010 Sep-Oct; Vol. 20 (5), pp. 634-5. Date of Electronic Publication: 2010 Jul 07.
Publication Year :: 2010

Subjects :: Abnormalities, Multiple pathology
DNA Mutational Analysis
Female
Humans
Ichthyosis genetics
Ichthyosis pathology
Infant
Nevus congenital
Syndrome
3-Hydroxysteroid Dehydrogenases genetics
Abnormalities, Multiple genetics
Codon, Nonsense
Nevus genetics

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