A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

American Journal of Medical Genetics, Part A

Volumn 170, Issue 2, 2016, Pages 392-402

  Fauth, Christine ^a   Steindl, Katharina ^b   Toutain, Annick ^c   Farrell, Sandra ^d   Witsch Baumgartner, Martina ^a   Karall, Daniela ^a   Joset, Pascal ^b   Böhm, Sebastian ^e   Baumer, Alessandra ^b   Maier, Oliver ^e   Zschocke, Johannes ^a   Weksberg, Rosanna ^f,g   Marshall, Christian R ^f,h   Rauch, Anita ^b  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITÉ DE TOURS   (France)

^d CREDIT VALLEY HOSPITAL   (Canada)

^e Kantonsspital St Gallen   (Switzerland)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Germline mutation; GPI anchor; PIGA; Simpson Golabi Behmel syndrome type 2

Indexed keywords

7 DEHYDROCHOLESTEROL; ALKALINE PHOSPHATASE; AMINO ACID; ETIRACETAM; GLYCOSAMINOGLYCAN; OLIGOSACCHARIDE; PHENOBARBITAL; PHENYTOIN; SULFITE; TRANSFERRIN; VERY LONG CHAIN FATTY ACID; VIGABATRIN; MEMBRANE PROTEIN; PHOSPHATIDYLINOSITOL GLYCAN-CLASS A PROTEIN;

APGAR SCORE; ARTICLE; AUTOPSY; BONE RADIOGRAPHY; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COOMBS TEST; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; EYE DISEASE; GASTROESOPHAGEAL REFLUX; GENE; GENETIC ANALYSIS; GERMLINE MUTATION; HEPATOSPLENOMEGALY; HUMAN; INFANT; KARYOTYPING; KIDNEY DYSPLASIA; MALE; MICROARRAY ANALYSIS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; PATENT FORAMEN OVALE; PHOTOTHERAPY; PIGA GENE; PNEUMONIA; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SEPSIS; SEQUENCE ANALYSIS; SIMPSON GOLABI BEHMEL SYNDROME; SIMPSON GOLABI BEHMEL SYNDROME TYPE 2; TONIC SEIZURE; X RAY ANALYSIS; CHILD; FEMALE; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PEDIGREE; PHENOTYPE; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; CHILD; FEMALE; GENETIC DISEASES, X-LINKED; GERM-LINE MUTATION; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; PEDIGREE; PHENOTYPE;

EID: 84956873662     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37452     Document Type: Article

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