Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

Journal of Human Genetics

Volumn 59, Issue 8, 2014, Pages 471-474

  Nakashima, Mitsuko ^a   Takano, Kyoko ^b,c   Osaka, Hitoshi ^b,d   Aida, Noriko ^b   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; ETIRACETAM; PHENOBARBITAL; PHOSPHATASE; POLYNUCLEOTIDE KINASE 3' PHOSPHATASE; PROTOCADHERIN 15; UNCLASSIFIED DRUG; PCDH15 PROTEIN, HUMAN; PHOSPHOTRANSFERASE; PNKP PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE;

APNEA; ARTICLE; AUDITORY SCREENING; BIRTH WEIGHT; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; COMPLEX PARTIAL SEIZURE; CORPUS CALLOSUM; DEVELOPMENTAL DELAY SYNDROME; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; FEEDING DIFFICULTY; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; GENE MUTATION; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HUMAN; JAPANESE (PEOPLE); MALE; MICROCEPHALY; MUSCLE HYPERTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; SEIZURE; STOMACH FUNDOPLICATION; USHER SYNDROME; WHITE MATTER; DNA SEQUENCE; GENETICS; HETEROZYGOTE; INFANT; MUTATION;

CADHERINS; DEVELOPMENTAL DISABILITIES; DNA REPAIR ENZYMES; HEARING LOSS; HETEROZYGOTE; HUMANS; INFANT; MALE; MICROCEPHALY; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SEIZURES; SEQUENCE ANALYSIS, DNA; USHER SYNDROMES;

EID: 84906717777     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.51     Document Type: Article

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