Mutations in PIK3R1 cause SHORT syndrome

American Journal of Human Genetics

Volumn 93, Issue 1, 2013, Pages 158-166

  Dyment, David A ^a   Smith, Amanda C ^a   Alcantara, Diana ^b   Schwartzentruber, Jeremy A ^c   Basel Vanagaite, Lina ^d   Curry, Cynthia J ^e,f   Temple, I Karen ^g,h   Reardon, William ⁱ   Mansour, Sahar ^j   Haq, Mushfequr R ^k   Gilbert, Rodney ^k   Lehmann, Ordan J ^l   Vanstone, Megan R ^a   Beaulieu, Chandree L ^a   Majewski, Jacek ^c   Bulman, Dennis E ^a   O'Driscoll, Mark ^b   Boycott, Kym M ^a   Innes, A Micheil ^m  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

^c MCGILL UNIVERSITY   (Canada)

^d SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^e Genetic Medicine Central California/UCSF   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^h UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

ⁱ OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^j ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^k SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^l UNIVERSITY OF ALBERTA   (Canada)

^m UNIVERSITY OF CALGARY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3 KINASE RECEPTOR 1; UNCLASSIFIED DRUG;

ADULT; ANTERIOR EYE CHAMBER DISEASE; ARTICLE; CELL GROWTH; CELL PROLIFERATION; CELL SURVIVAL; CHILD; CLINICAL ARTICLE; CONGENITAL MALFORMATION; EXOME; EXON; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; HERNIA; HETEROZYGOTE; HUMAN; JOINT LAXITY; LIPODYSTROPHY; LYMPHOBLASTOID CELL; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SHORT SYNDROME; SIGNAL TRANSDUCTION; TOOTH MALFORMATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CLASS IA PHOSPHATIDYLINOSITOL 3-KINASE; DNA MUTATIONAL ANALYSIS; EXOME; EXONS; FEMALE; FRAMESHIFT MUTATION; GROWTH DISORDERS; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; HYPERCALCEMIA; INFANT, NEWBORN; MALE; METABOLIC DISEASES; NEPHROCALCINOSIS; PEDIGREE; PHENOTYPE; PHOSPHORYLATION; SIGNAL TRANSDUCTION;

EID: 84880316181     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.06.005     Document Type: Article

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