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

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

(2016) Aleksandra Jezela-Stanek et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review

(2015) Natario L. Couser et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

APIGNmutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family

(2015) Morad Khayat et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novelPIGNmutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency

(2015) Taku Nakagawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

(2015) Leah Fleming et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The genetics of common disorders – Congenital diaphragmatic hernia

(2014) Anne M. Slavotinek   European Journal of Medical Genetics

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

(2014) P.D. Brady et al.   European Journal of Medical Genetics

Prenatal and postnatal findings in five cases of Fryns syndrome

(2014) Angela Peron et al.   PRENATAL DIAGNOSIS

Biosynthesis and deficiencies of glycosylphosphatidylinositol

(2014) Taroh KINOSHITA   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans

(2014) Anna Petryk et al.   Wiley Interdisciplinary Reviews-Developmental Biology

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

(2013) Chihiro Ohba et al.   NEUROGENETICS

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of Tgif Function Causes Holoprosencephaly by Disrupting the Shh Signaling Pathway

(2012) Kenichiro Taniguchi et al.   PLoS Genetics

Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly

(2012) D. M. McKean et al.   Biology Open

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH