Genitourinary malformations as a feature of the Pallister-Hall syndrome

Clinical Dysmorphology

Volumn 15, Issue 2, 2006, Pages 75-79

  McCann, Emma ^a   Fryer, Alan E ^a   Craigie, Ross ^a   Baillie, Colin ^a   Ba'ath, Muhammed E ^a   Selby, Andrew ^a   Biesecker, Leslie G ^b  

^a ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

GLI3; Hydrometrocolpos; Hypothalamic hamartoma; McKusick Kaufman; Pallister Hall

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GLI3; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONDUCTION DEAFNESS; DIAGNOSTIC VALUE; FEMALE; FINGER MALFORMATION; HUMAN; MCKUSICK KAUFMAN SYNDROME; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PALLISTER HALL SYNDROME; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; STOP CODON; UROGENITAL TRACT MALFORMATION;

CHILD, PRESCHOOL; COLPOSCOPY; DNA MUTATIONAL ANALYSIS; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; PALLISTER-HALL SYNDROME; PHENOTYPE; POLYDACTYLY; UROGENITAL ABNORMALITIES;

EID: 33749324546     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000184972.76657.e1     Document Type: Article

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