Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B

American Journal of Medical Genetics

Volumn 119 A, Issue 3, 2003, Pages 257-265

  Wilson, Meredith ^a   Mowat, David ^b   Dastot Le Moal, Florence ^c   Cacheux, Valère ^c   Kääriäinen, Helena ^d   Cass, Danny ^a   Donnai, Dian ^e   Clayton Smith, Jill ^e   Townshend, Sharron ^f   Curry, Cynthia ^g   Gattas, Michael ^h   Braddock, Stephen ⁱ   Kerr, Bronwyn ^e   Aftimos, Salim ^k   Zehnwirth, Harry ^k   Barrey, Catherine ^j   Goossens, Michel ^c  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c HENRI MONDOR HOSPITAL   (France)

^d Vaestoliitto   (Finland)

^e ST MARY S HOSPITAL   (United Kingdom)

^f KING EDWARD MEMORIAL HOSPITAL   (Australia)

^g Children's Hosp Ctrl CA/UCSF   (United States)

^h ROYAL CHILDREN'S HOSPITAL   (Australia)

ⁱ University of Missouri   (United States)

^j Hopital Saint Camille   (France)

^k NONE

more..

Author keywords

Epilepsy; HSCR; Mental retardation; SIP1; ZFHX1B

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; EPILEPSY; FACE DYSMORPHIA; FACE MALFORMATION; FACIES; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; HYPOSPADIAS; KIDNEY MALFORMATION; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; SIP1 GENE; SYNDROME DELINEATION; UROGENITAL TRACT MALFORMATION; ZFHX1B GENE;

EID: 10744220219     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20053     Document Type: Article

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