Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

Human Mutation

Volumn 37, Issue 7, 2016, Pages 695-702

  McInerney Leo, Aideen M ^a,b   Harris, Jessica E ^a,b   Gattas, Michael ^c   Peach, Elizabeth E ^d   Sinnott, Stephen ^d   Dudding Byth, Tracy ^e   Rajagopalan, Sulekha ^f   Barnett, Christopher P ^g,h   Anderson, Lisa K ^b   Wheeler, Lawrie ^a,b   Brown, Matthew A ^b   Leo, Paul J ^a,b   Wicking, Carol ^a   Duncan, Emma L ^a,b,i  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b QUEENSLAND UNIVERSITY OF TECHNOLOGY   (Australia)

^c WESLEY HOSPITAL   (Australia)

^d Specialized Obstetric and Gynaecological Imaging   (Australia)

^e UNIVERSITY OF NEWCASTLE   (Australia)

^f LIVERPOOL HOSPITAL   (Australia)

^g WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^h UNIVERSITY OF ADELAIDE   (Australia)

ⁱ ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

diaphragmatic hernia; Fryns syndrome; multiple congenital anomalies hypotonia seizures; Phosphatidylinositol Glycan Anchor Biosynthesis Class N; PIGN

Indexed keywords

ALLELE; ANTEVERTED NOSTRIL; ARTICLE; AUTOPSY; BINDING SITE; BRAIN MALFORMATION; CARDIOVASCULAR MALFORMATION; CASE REPORT; CLEFT PALATE; CONGENITAL MALFORMATION; CYSTIC LYMPHANGIOMA; DIAPHRAGM HERNIA; ECHOGENIC BOWEL; EVOLUTIONARY RATE; EXON; FEMALE; FEMUR; FETUS; FIRST TRIMESTER PREGNANCY; FRYNS SYNDROME; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GESTATIONAL AGE; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYDRAMNIOS; HYPERTELORISM; KIDNEY DYSPLASIA; LONG PHILTRUM; LOW SET EAR; LUNG HYPOPLASIA; MACROSTOMIA; MICROGNATHIA; MICROPHTHALMIA; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY TERMINATION; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; RECESSIVE INHERITANCE; RETROGNATHIA; SIBLING; UMBILICAL HERNIA;

EID: 84974736224     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22994     Document Type: Article

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