Finding new etiologies of mental retardation and hypotonia: X marks the spot

Developmental Medicine and Child Neurology

Volumn 50, Issue 2, 2008, Pages 104-111

  Rogers, R Curtis ^a,b   Stevenson, Roger E ^a   Simensen, Richard J ^a   Holden, Kenton R ^a   Schwartz, Charles E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CREATINE TRANSPORTER; METHYL CPG BINDING PROTEIN 2; MONOCARBOXYLATE TRANSPORTER 8; NUCLEAR PROTEIN; SLC6A8 PROTEIN; SPERMINE SYNTHASE; UNCLASSIFIED DRUG; X LINKED NUCLEAR PROTEIN;

ALLAN HERNDON DUDLEY SYNDROME; ATRX SYNDROME; CLINICAL STUDY; CREATINE TRANSPORTER DEFICIENCY; DIAGNOSTIC ACCURACY; GENE DUPLICATION; HUMAN; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR GENETICS; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PATHOGENESIS; PELIZAEUS MERZBACHER DISEASE; PHYSICAL DISEASE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REVIEW; SNYDER ROBINSON SYNDROME; X LINKED MENTAL RETARDATION;

ALPHA-THALASSEMIA; CHILD; CHROMOSOMES, HUMAN, X; HUMANS; MEMBRANE TRANSPORT PROTEINS; MENTAL RETARDATION, X-LINKED; METHYL-CPG-BINDING PROTEIN 2; MONOCARBOXYLIC ACID TRANSPORTERS; MUSCLE HYPOTONIA; MUSCLE SPASTICITY; MUTATION; NERVE TISSUE PROTEINS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; SEX CHROMOSOME DISORDERS; SPERMINE SYNTHASE;

EID: 38349051487     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2007.02022.x     Document Type: Review

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