Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2719-2725

  Bober, Michael B ^a   Niiler, Tim ^b   Duker, Angela L ^a   Murray, Jennie E ^c   Ketterer, Tara ^a   Harley, Margaret E ^c   Alvi, Sabah ^d   Flora, Christina ^e   Rustad, Cecilie ^f   Bongers, Ernie M H F ^g   Bicknell, Louise S ^c   Wise, Carol ^h   Jackson, Andrew P ^c  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b PENNSYLVANIA STATE UNIVERSITY   (United States)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^e ST JOSEPH S REGIONAL MEDICAL CENTER   (United States)

^f OSLO UNIVERSITY HOSPITAL   (Norway)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

Author keywords

Growth; MOPDII; Pericentrin; Primordial dwarfism

Indexed keywords

HUMAN GROWTH HORMONE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BODY HEIGHT; BODY WEIGHT; BONE MATURATION; CHILD; CHILD GROWTH; FEMALE; FUNCTIONAL ASSESSMENT; GENE; GENE MUTATION; GENETIC SCREENING; GESTATIONAL AGE; GROWTH ACCELERATION; GROWTH CURVE; GROWTH DISORDER; GROWTH RATE; HUMAN; INFANT; MAJEWSKI OSTEODYSPLASTIC PRIMODIAL DWARFISM TYPE II; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NEWBORN; PERICENTRIN GENE; POPULATION RESEARCH; POSTNATAL GROWTH; PRENATAL GROWTH; PRIORITY JOURNAL; PUBERTY; REFERENCE VALUE; RETROSPECTIVE STUDY; SHORT STATURE; STATISTICAL ANALYSIS; TREATMENT RESPONSE;

ADOLESCENT; ADULT; ANTIGENS; BODY HEIGHT; BODY WEIGHT; CHILD; CHILD, PRESCHOOL; DWARFISM; FEMALE; FETAL GROWTH RETARDATION; GROWTH CHARTS; HUMAN GROWTH HORMONE; HUMANS; MALE; MICROCEPHALY; MUTATION; OSTEOCHONDRODYSPLASIAS; YOUNG ADULT;

EID: 84867884997     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35447     Document Type: Article

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