A Case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 4, 2015, Pages 1221-1224

  Lucas Herald, Angela K ^a   Kinning, Esther ^b   Iida, Aritoshi ^c   Wang, Zheng ^c   Miyake, Noriko ^d   Ikegawa, Shiro ^c   McNeilly, Jane ^b   Ahmed, S Faisal ^a  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^c Institute of Physical and Chemical Research   (Japan)

^d YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GONADORELIN; GROWTH HORMONE; HYDROCORTISONE; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C; TETRACOSACTIDE; CARRIER PROTEIN; HUMAN GROWTH HORMONE; IFT172 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADOLESCENT; ANTERIOR PITUITARY HYPOPLASIA; ARTICLE; BRAIN MALFORMATION; CAFE AU LAIT SPOT; CASE REPORT; CHILD; CILIOPATHY; CLINODACTYLY; CORTICOTROPIN TEST; COXA VARA; ECTOPIC POSTERIOR PITUITARY GLAND; FEMUR NECK FRACTURE; FEMUR OSTEOTOMY; GENE; GENE MUTATION; GONADORELIN TEST; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HEMODIALYSIS; HETEROZYGOTE; HIP DYSPLASIA; HUMAN; HYPERTENSION; IFT172 GENE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; KNEE PAIN; LANGUAGE DELAY; MALE; MIDFACE HYPOPLASIA; MISSENSE MUTATION; NEWBORN; NIGHT BLINDNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; RETINOPATHY; SCHOOL CHILD; SHORT STATURE; SPLICING DEFECT; STRESS FRACTURE; DEFICIENCY; DWARFISM, PITUITARY; GENETICS; GROWTH CURVE; INFANT; METABOLISM; MUTATION;

ADOLESCENT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DWARFISM, PITUITARY; GROWTH CHARTS; HUMAN GROWTH HORMONE; HUMANS; INFANT; INSULIN-LIKE GROWTH FACTOR I; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION;

EID: 84927663361     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-3852     Document Type: Article

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