A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

European Journal of Medical Genetics

Volumn 58, Issue 8, 2015, Pages 387-391

  Horn, Denise ^a   Prescott, Trine ^b   Houge, Gunnar ^c   Brække, Kristin ^b   Rosendahl, Karen ^c,d   Nishimura, Gen ^e   FitzPatrick, David R ^f   Spranger, Jürgen ^g  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF BERGEN   (Norway)

^e TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^f MEDICAL RESEARCH COUNCIL   (United Kingdom)

^g MRC Institute of Medical Genetic and Molecular Medicine ^*  (Germany)

Author keywords

Anophthalmia; Intellectual disability; MAB21L2; Rhizomelia

Indexed keywords

GONADORELIN DERIVATIVE; EYE PROTEIN; MAB21L2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADULT; ANOPHTHALMIA; ARTICLE; AUTISM; BONE AGE; BONE DYSPLASIA; CASE REPORT; CHILD; EXOME; FEMALE; FETUS; HAND MOVEMENT; HETEROZYGOTE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; JOINT CONTRACTURE; MAB21L2 GENE; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NEWBORN; OCULOSKELETAL SYNDROME; ORBIT IMPLANT; ORBIT RECONSTRUCTION; PHENOTYPE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; RANGE OF MOTION; SCHOOL CHILD; SHORT STATURE; TONIC CLONIC SEIZURE; WALKING DIFFICULTY; YOUNG ADULT; ADOLESCENT; ANOPHTHALMOS; BONE DISEASES, DEVELOPMENTAL; GENE EXPRESSION; GENETICS; INTELLECTUAL DISABILITY; PATHOLOGY; PEDIGREE; SYNDROME;

ADOLESCENT; ADULT; ANOPHTHALMOS; BONE DISEASES, DEVELOPMENTAL; EXOME; EYE PROTEINS; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 84938249168     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.06.003     Document Type: Article

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