Rubinstein-Taybi syndrome in first cousins with different de novo mutations

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 1036-1038

  Balci, Sevim ^a   Ergün, Mehmet Ali ^b   Lechno, Stanislav ^c   Bartsch, Oliver ^c  

^a HACETTEPE UNIVERSITY   (Turkey)

^b GAZI UNIVERSITY   (Turkey)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CHROMOSOME DELETION; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CREBBP GENE; EXON; GENE; GENE DELETION; HUMAN; INGROWN NAIL; LETTER; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PARONYCHIA; POINT MUTATION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME;

ADOLESCENT; ADULT; CREB-BINDING PROTEIN; FAMILY; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PREGNANCY; RUBINSTEIN-TAYBI SYNDROME;

EID: 77950389851     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33259     Document Type: Letter

References (7)

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