Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis...

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Bibliographic Details
Main Authors: Rabah M. Shawky, Solaf M. Elsayed, Heba Amgad
Format: Article
Language:English
Published: SpringerOpen 2016-07-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Ichthyosis
Limb reduction
CHILD
Autosomal recessive
Online Access:http://www.sciencedirect.com/science/article/pii/S111086301500110X

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http://www.sciencedirect.com/science/article/pii/S111086301500110X

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