Title : Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene.

Pub. Date : 2018 Aug

PMID : 29679838






1 Functional Relationships(s)
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1 However, genetic analysis revealed a rare heterozygous 21bp in-frame deletion of the polyalanine coding sequences of the PHOX2B gene. polyalanine paired like homeobox 2B Homo sapiens