X-linked isolated growth hormone deficiency: Expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

Clinical Dysmorphology

Volumn 18, Issue 4, 2009, Pages 218-221

  Burkitt Wright, Emma M M ^a   Perveen, Rahat ^a   Clayton, Peter E ^a,b,c   Hall, Catherine M ^c   Costa, Teresa ^e   Procter, Annie M ^d   Giblin, Carol A ^a   Donnai, Dian ^a   Black, Graeme C ^a  

^a MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; DNA; GROWTH HORMONE; POLYAMINOACID; TRANSCRIPTION FACTOR SOX3; HUMAN GROWTH HORMONE; PEPTIDE; POLYALANINE; SOX3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HORMONE SUBSTITUTION; HUMAN; HYPOPITUITARISM; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; X CHROMOSOME LINKED DISORDER; X CHROMOSOME RECESSIVE INHERITANCE; ADOLESCENT; FEMALE; GENETICS; INFANT; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; TRINUCLEOTIDE REPEAT; X CHROMOSOMAL INHERITANCE;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, X-LINKED; HUMAN GROWTH HORMONE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PEPTIDES; PHENOTYPE; SOXB1 TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 70449729970     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32832d06f0     Document Type: Article

References (14)

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