Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

American Journal of Human Genetics

Volumn 92, Issue 4, 2013, Pages 598-604

  Shaheen, Ranad ^a   Aglan, Mona ^b   Keppler Noreuil, Kim ^c   Faqeih, Eissa ^a   Ansari, Shinu ^a   Horton, Kim ^d   Ashour, Adel ^b   Zaki, Maha S ^b   Al Zahrani, Fatema ^a   Cueto González, Anna M ^e   Abdel Salam, Ghada ^b   Temtamy, Samia ^b   Alkuraya, Fowzan S ^a,f  

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

^b NATIONAL RESEARCH CENTRE   (Egypt)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF IOWA   (United States)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^f ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

DOCK6 PROTEIN; EOGT PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADAMS OLIVER SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; DELETION MUTANT; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE DUPLICATION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; INFANT; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; CONSANGUINITY; ECTODERMAL DYSPLASIA; EXOME; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; PEDIGREE; SCALP DERMATOSES;

EID: 84875917005     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.02.012     Document Type: Article

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