Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation - Clinical report and review

American Journal of Medical Genetics

Volumn 140 A, Issue 6, 2006, Pages 611-617

  Courtens, Winnie ^a   Wuyts, Wim ^a   Poot, Martin ^b   Szuhai, Karoly ^c   Wauters, Jan ^a   Reyniers, Edwin ^a   Eleveld, Marc ^b   Diaz, George ^d   Nöthen, Markus M ^e   Parvari, Ruti ^d  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^e UNIVERSITY OF BONN   (Germany)

Author keywords

Array CGH analyses; Chromosome 1q42 q43; Dysmorphism; Hypoparathyroidism; Kenny Caffey syndrome; Microduplication RP11 262I1; Retardation; Sanjad Sakati syndrome; TBCE gene

Indexed keywords

ALPHA TUBULIN; CHAPERONE;

ADULT; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 1; CHROMOSOME 4Q; EVALUATION RESEARCH; FEMALE; GENE; GENE DUPLICATION; GENE LOCUS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HYPOPARATHYROIDISM; HYPOPARATHYROIDISM RETARDATION DYSMORPHISM SYNDROME; IMMUNOHISTOCHEMISTRY; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; REVIEW; SANJAD SAKATI SYNDROME; SYNDROME DELINEATION; TBCE GENE;

ABNORMALITIES, MULTIPLE; BLOTTING, WESTERN; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; FACE; FEMALE; GENE DUPLICATION; GENOME, HUMAN; HUMANS; HYPOPARATHYROIDISM; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MENTAL RETARDATION; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR CHAPERONES; MUTATION; NUCLEIC ACID HYBRIDIZATION; SYNDROME;

EID: 33644858476     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31122     Document Type: Review

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