Recessive mutations in DOCK6, Encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

American Journal of Human Genetics

Volumn 89, Issue 2, 2011, Pages 328-333

  Shaheen, Ranad ^a   Faqeih, Eissa ^b   Sunker, Asma ^a   Morsy, Heba ^c   Al Sheddi, Tarfa ^a   Shamseldin, Hanan E ^a   Adly, Nouran ^a   Hashem, Mais ^a   Alkuraya , Fowzan S ^a,d,e  

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

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c ALEXANDRIA UNIVERSITY   (Egypt)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; DEDICATOR OF CYTOKINESIS 6; GUANINE NUCLEOTIDE EXCHANGE FACTOR; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; INITIATION FACTOR; PROTEIN ARHGAP31; PROTEIN CDC42; RAC1 PROTEIN; UNCLASSIFIED DRUG;

ADAMS OLIVER SYNDROME; ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CYTOSKELETON; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; EXOME; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; HUMAN; HUMAN CELL; INFANT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE GENE; X RAY;

ACTINS; ANIMALS; BASE SEQUENCE; CHILD, PRESCHOOL; CYTOSKELETON; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; EMBRYONIC DEVELOPMENT; FEMALE; FIBROBLASTS; GENES, RECESSIVE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SCALP DERMATOSES;

EID: 80051666679     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.07.009     Document Type: Article

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