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

Clinical Dysmorphology

Volumn 19, Issue 4, 2010, Pages 195-197

  Ruiter, Mariken ^a   Kamsteeg, Erik Jan ^a   Meroni, Germana ^b   De Vries, Bert B A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Cluster in Biomedicine   (Italy)

Author keywords

congenital abnormalities; family studies; MID1midline 1 (Opitz BBB syndrome) protein human; missense; mutation; reduced penetrance

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME XP; CLEFT LIP PALATE; GENE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MALE; MID1 GENE; MISSENSE MUTATION; NOSE MALFORMATION; OPITZ SYNDROME; PENETRANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; TELECANTHUS; X CHROMOSOME LINKED DISORDER;

CHROMOSOMES, HUMAN, X; ESOPHAGUS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; HYPERTELORISM; HYPOSPADIAS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE PROTEINS; MUTATION, MISSENSE; NUCLEAR PROTEINS; TRANSCRIPTION FACTORS;

EID: 77957590644     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32833dc5ee     Document Type: Article

References (13)

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