A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome.

Ruiter, Mariken

A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. [electronic resource] - Clinical dysmorphology Oct 2010 - 195-197 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1473-5717

10.1097/MCD.0b013e32833dc5ee doi


Chromosomes, Human, X
Esophagus--abnormalities
Female
Genetic Diseases, X-Linked--genetics
Humans
Hypertelorism--genetics
Hypospadias--genetics
Infant
Magnetic Resonance Imaging
Male
Microtubule Proteins--genetics
Mutation, Missense
Nuclear Proteins--genetics
Transcription Factors--genetics
Ubiquitin-Protein Ligases