Mild phenotypes in a series of patients with opitz GBBB syndrome with MID1 mutations

American Journal of Medical Genetics

Volumn 132 A, Issue 1, 2005, Pages 1-7

  So, Joyce ^a,b   Suckow, Vanessa ^a   Kijas, Zofia ^a   Kalscheuer, Vera ^a   Moser, Bettina ^a   Winter, Jennifer ^a   Baars, Marieke ^c   Firth, Helen ^d   Lunt, Peter ^e   Hamel, Ben ^f   Meinecke, Peter ^g   Moraine, Claude ^h   Odent, Sylvie ⁱ   Schinzel, Albert ^j   Van Der Smagt, J J ^k   Devriendt, Koen ^l   Albrecht, Beate ^m   Gillessen Kaesbach, Gabriele ^m   Van Der Burgt, Ineke ^f   Petrij, Fred ⁿ   Faivre, Laurence ^o   McGaughran, Julie ^p   McKenzie, Fiona ^q   Opitz, John M ^r   Cox, Timothy ^s   Schweiger, Susann ^a,t   more..

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e ST MICHAEL'S HOSPITAL   (United Kingdom)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g Altonaer Kinderkrankenhaus   (Germany)

^h CHU BRETONNEAU   (France)

ⁱ SERVICE DE RHUMATOLOGIE   (France)

^j UNIVERSITY OF ZURICH   (Switzerland)

^k UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^l UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^m UNIVERSITY HOSPITAL ESSEN   (Germany)

ⁿ ERASMUS MEDICAL CENTER   (Netherlands)

^o Medical University of Dijon   (France)

^p ROYAL CHILDREN'S HOSPITAL   (Australia)

^q UNIVERSITY OF NEWCASTLE   (Australia)

^r UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^s UNIVERSITY OF ADELAIDE   (Australia)

^t NONE   (Germany)

more..

Author keywords

MID1; Phenotypic variability; X linked Opitz syndrome

Indexed keywords

ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL LITERATURE; MID1 GENE; OPITZ SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENCE;

EXONS; FAMILY HEALTH; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MICROTUBULE PROTEINS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME; TRANSCRIPTION FACTORS;

EID: 19944429099     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30407     Document Type: Article

References (15)

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