Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

Journal of medical genetics

Volumn 43, Issue 6, 2006, Pages

  Lubs, H ^a   Abidi, F E ^a   Echeverri, R ^a   Holloway, L ^a   Meindl, A ^a   Stevenson, R E ^a   Schwartz, C E ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; NUCLEAR PROTEIN; PQBP1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CASE REPORT; CHEMISTRY; GENETICS; HEART SEPTUM DEFECT; HUMAN; LETTER; MALE; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR GENETICS; MORTALITY; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN TERTIARY STRUCTURE; SEQUENCE ALIGNMENT; SYNDROME; X LINKED MENTAL RETARDATION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CARRIER PROTEINS; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; SYNDROME;

EID: 33745500513     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2005.037556     Document Type: Letter

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