Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

American Journal of Medical Genetics, Part A

Volumn 143, Issue 2, 2007, Pages 149-160

  Al Semari, Abdulariz ^a   Bohlega, Saeed ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

Alopecia; Diabetes mellitus; Dystonia; Hypogonadism; Low IGF1

Indexed keywords

SOMATOMEDIN C;

ADOLESCENT; ADULT; ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BRAIN DISEASE; BRAIN REGION; BRAIN STEM; CEREBELLUM; CHOREOATHETOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; DIABETES MELLITUS; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; DISEASE COURSE; DYSARTHRIA; DYSPHAGIA; DYSTONIA; EXTRAPYRAMIDAL SYNDROME; FAMILY ASSESSMENT; FEMALE; GENETIC ASSOCIATION; HORMONE BLOOD LEVEL; HUMAN; HYPOGONADISM; IMAGE ENHANCEMENT; INTELLECTUAL IMPAIRMENT; MALE; MUSCLE TONE; NEUROIMAGING; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PREVALENCE; PRIORITY JOURNAL; SAUDI ARABIA; SCOLIOSIS; SENSORY NERVE CELL; SIGNAL PROCESSING; SUBSTANTIA NIGRA; WHITE MATTER;

ADOLESCENT; ADULT; ALOPECIA; BASAL GANGLIA DISEASES; BRAIN DISEASES; CHILD; DIABETES MELLITUS; DOWN-REGULATION; FEMALE; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOGONADISM; INSULIN-LIKE GROWTH FACTOR I; MALE; PEDIGREE; SYNDROME;

EID: 33846028579     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31497     Document Type: Article

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