Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination

Clinical Endocrinology

Volumn 77, Issue 3, 2012, Pages 335-342

  Clayton, Peter E ^a,b   Hanson, Dan ^a   Magee, Lucia ^a   Murray, Philip G ^a   Saunders, Emma ^a   Abu Amero, Sayeda N ^c   Moore, Gudrun E ^c   Black, Graeme C M ^a,b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN D1; GROWTH FACTOR; GROWTH HORMONE; PROTEIN P53; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C;

3M SYNDROME; APOPTOSIS; CCDC8 GENE; CLINICAL FEATURE; CUL7 GENE; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DRUG DOSE INCREASE; GENE; GENE FUNCTION; GENE MUTATION; GENETIC SCREENING; OBSL1 GENE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SHORT STATURE; SILVER RUSSELL SYNDROME; UBIQUITINATION;

CARRIER PROTEINS; CHILD; CULLIN PROTEINS; CYTOSKELETAL PROTEINS; DIAGNOSIS, DIFFERENTIAL; DWARFISM; FEMALE; FETAL GROWTH RETARDATION; HUMAN GROWTH HORMONE; HUMANS; INFANT, NEWBORN; INFANT, SMALL FOR GESTATIONAL AGE; MALE; METABOLIC NETWORKS AND PATHWAYS; MUSCLE HYPOTONIA; MUTATION; PREGNANCY; SILVER-RUSSELL SYNDROME; SPINE; UBIQUITINATION;

EID: 84865023913     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2012.04428.x     Document Type: Review

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