Acid-labile subunit deficiency and growth failure: Description of two novel cases

Hormone Research in Paediatrics

Volumn 73, Issue 5, 2010, Pages 328-334

  David, A ^a   Rose, S J ^b   Miraki Moud, F ^a   Metherell, L A ^a   Savage, M O ^a   Clark, A J L ^a   Camacho Hubner C ^c  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Acid labile subunit; Insulin like growth factor I deficiency; Linear growth; Mutations, acid labile subunit; Short stature

Indexed keywords

GROWTH HORMONE RECEPTOR;

ACID LABILE SUBUNIT GENE; ADOLESCENT; ARTICLE; CASE REPORT; CHILD; GENE; GENE MUTATION; GENE SEQUENCE; GROWTH DISORDER; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; CARRIER PROTEINS; CHILD; CONSANGUINITY; FRAMESHIFT MUTATION; GLYCOPROTEINS; GROWTH DISORDERS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; MALE; MUTATION, MISSENSE;

EID: 77954066167     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000308164     Document Type: Article

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