TY  - GEN
AU  - Ruiter,Mariken
AU  - Kamsteeg,Erik-Jan
AU  - Meroni,Germana
AU  - de Vries,Bert B A
TI  - A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome
SN  - 1473-5717
PY  - 2011///0103
KW  - Chromosomes, Human, X
KW  - Esophagus
KW  - abnormalities
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - genetics
KW  - Humans
KW  - Hypertelorism
KW  - Hypospadias
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Microtubule Proteins
KW  - Mutation, Missense
KW  - Nuclear Proteins
KW  - Transcription Factors
KW  - Ubiquitin-Protein Ligases
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1097/MCD.0b013e32833dc5ee
ER  -