Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

American Journal of Human Genetics

Volumn 98, Issue 4, 2016, Pages 615-626

  Makrythanasis, Periklis ^a,b   Kato, Mitsuhiro ^c,d   Zaki, Maha S ^e   Saitsu, Hirotomo ^f   Nakamura, Kazuyuki ^c   Santoni, Federico A ^a,b   Miyatake, Satoko ^f   Nakashima, Mitsuko ^f   Issa, Mahmoud Y ^e   Guipponi, Michel ^b   Letourneau, Audrey ^a   Logan, Clare V ^g   Roberts, Nicola ^g   Parry, David A ^g   Johnson, Colin A ^g   Matsumoto, Naomichi ^f   Hamamy, Hanan ^a   Sheridan, Eamonn ^g   Kinoshita, Taroh ^h   Antonarakis, Stylianos E ^a,b   Murakami, Yoshiko ^h   more..

^a UNIVERSITY OF GENEVA   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c YAMAGATA UNIVERSITY   (Japan)

^d SHOWA UNIVERSITY   (Japan)

^e NATIONAL RESEARCH CENTRE   (Egypt)

^f YOKOHAMA CITY UNIVERSITY   (Japan)

^g UNIVERSITY OF LEEDS   (United Kingdom)

^h OSAKA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSYLPHOSPHATIDYLINOSITOL; MANNOSE; PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS G; PHOSPHOETHANOLAMINE; UNCLASSIFIED DRUG; MANNOSYLTRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; B LYMPHOBLAST; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; EGYPT; ENZYME ACTIVITY; ENZYME MODIFICATION; FEMALE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; JAPAN; JAPANESE (PEOPLE); MALE; MUSCLE HYPOTONIA; PAKISTAN; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SEQUENCE ANALYSIS; CONSANGUINITY; GENETIC VARIATION; GENETICS; GENOTYPING TECHNIQUE; HEK293 CELL LINE; HETEROZYGOTE; HOMOZYGOTE; INFANT; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; PEDIGREE; TUMOR CELL LINE; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CELL LINE, TUMOR; CHILD; CONSANGUINITY; EGYPT; GENETIC VARIATION; GENOTYPING TECHNIQUES; GLYCOSYLPHOSPHATIDYLINOSITOLS; HEK293 CELLS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; JAPAN; MANNOSYLTRANSFERASES; MUSCLE HYPOTONIA; MUTATION; PAKISTAN; PEDIGREE; SEIZURES; YOUNG ADULT;

EID: 84961223480     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.02.007     Document Type: Article

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