A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26

European Journal of Medical Genetics

Volumn 50, Issue 3, 2007, Pages 216-223

  Cilliers, Deirdre D ^a   Parveen, Rahat ^a   Clayton, Peter ^b   Cairns, Stephen A ^c   Clarke, Sheila ^c   Shalet, Stephen M ^d   Black, Graeme C M ^a   Newman, William G ^a   Clayton Smith, Jill ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c ROYAL PRESTON HOSPITAL   (United Kingdom)

^d CHRISTIE HOSPITAL   (United Kingdom)

Author keywords

Hypogonadic hypogonadism; Late onset testicular failure; Short stature; X linked mental retardation (XLMR)

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; MICROSATELLITE DNA; TESTOSTERONE;

ADULT; ARTICLE; BIRTH WEIGHT; CHROMOSOME XQ; CLINICAL FEATURE; DELAYED PUBERTY; FEMALE; FREE THYROXINE INDEX; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; HYPOGONADISM; KARYOTYPE; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE ATROPHY; OBSESSION; PARANOIA; SHORT STATURE; TESTIS DESCENT; TESTIS DEVELOPMENT; TREMOR; X LINKED MENTAL RETARDATION;

ADOLESCENT; ADULT; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; FACIES; FEMALE; GROWTH DISORDERS; HAPLOTYPES; HUMANS; HYPOGONADISM; MALE; MENTAL RETARDATION, X-LINKED; MICROCEPHALY; MICROSATELLITE REPEATS; PEDIGREE; SYNDROME; TESTICULAR DISEASES;

EID: 34248530186     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.01.003     Document Type: Article

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