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Volumn 176, Issue 5, 2018, Pages 1108-1114

Extending the phenotype associated with the CSNK2A1-related Okur–Chung syndrome—A clinical study of 11 individuals

(15)  Owen, Ceris I a   Bowden, Ramsay b   Parker, Michael J c   Patterson, Jo c   Patterson, Joan b   Price, Sue d   Sarkar, Ajoy e   Castle, Bruce f   Deshpande, Charulatha g   Splitt, Miranda h   Ghali, Neeti i   Dean, John j   Green, Andrew J k   Crosby, Charlene l   Tatton Brown, Katrina l,n  


Author keywords

CSNK2A1; DDD study; intellectual disability; Okur Chung; protein kinase CK2

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; CSNK2A1 GENE; DISEASE SEVERITY; DYSPHAGIA; FACE DYSMORPHIA; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MUSCLE HYPOTONIA; OKUR CHUNG SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WHOLE EXOME SEQUENCING; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHEMISTRY; EXON; FACIES; GENETICS; MENTAL DISEASE; MUTATION; PROTEIN DOMAIN; PROTEIN MOTIF;

EID: 85041231309     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38610     Document Type: Article
Times cited : (33)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.