Phenotype–genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

Human Mutation

Volumn 38, Issue 7, 2017, Pages 805-815

  Tanigawa, Junpei ^a   Mimatsu, Haruka ^b   Mizuno, Seiji ^c   Okamoto, Nobuhiko ^d   Fukushi, Daisuke ^c   Tominaga, Koji ^a,e   Kidokoro, Hiroyuki ^b   Muramatsu, Yukako ^b   Nishi, Eriko ^c   Nakamura, Shota ^f   Motooka, Daisuke ^f   Nomura, Noriko ^c   Hayasaka, Kiyoshi ^g   Niihori, Tetsuya ^h   Aoki, Yoko ^h   Nabatame, Shin ^a   Hayakawa, Masahiro ^b   Natsume, Jun ⁱ   Ozono, Keiichi ^a   Kinoshita, Taroh ^f   Wakamatsu, Nobuaki ^c   Murakami, Yoshiko ^f   more..

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY HOSPITAL   (Japan)

^c INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^d RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^e OSAKA UNIVERSITY   (Japan)

^f OSAKA UNIVERSITY   (Japan)

^g YAMAGATA UNIVERSITY   (Japan)

^h TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

epilepsy; glycosylphosphatidylinositol (GPI); Hirschsprung disease; inherited glycosylphosphatidylinositol deficiency (IGD); PIGO

Indexed keywords

ALKALINE PHOSPHATASE; PHENOBARBITAL; PHOSPHATIDYLINOSITOL; PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS O; PYRIDOXINE; UNCLASSIFIED DRUG; VALPROIC ACID; MEMBRANE PROTEIN; PHOSPHATIDYLINOSITOL GLYCAN-CLASS A PROTEIN; PIGO PROTEIN, HUMAN;

ADOLESCENT; ALKALINE PHOSPHATASE BLOOD LEVEL; ANUS ATRESIA; ARTICLE; CHILD; CLEFT PALATE; CRYPTORCHISM; DISEASE SEVERITY; EPILEPSY; FEMALE; FLOW CYTOMETRY; FOCAL EPILEPSY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYDRAMNIOS; INFANT; INTELLECTUAL IMPAIRMENT; JAPANESE (PEOPLE); LEARNING DISORDER; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS O DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; TONIC CLONIC SEIZURE; WHOLE EXOME SEQUENCING; DEFICIENCY; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; HEK293 CELL LINE; JAPAN; MUTATION; PATHOLOGY; PEDIGREE; SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEK293 CELLS; HUMANS; INFANT; INTELLECTUAL DISABILITY; JAPAN; LEARNING DISORDERS; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 85018605617     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23219     Document Type: Article

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