Fryns Syndrome Latest Advances

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 31, 2022

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

Journal: Prenatal diagnosis

Published: February 22, 2022

Lessons learned from 40 novel PIGA patients and a review of the literature.

Journal: Epilepsia

Published: March 08, 2020

Jarcho-Levin Syndrome and Concomitant Carotid Glomus Tumor: First Reported Case.

Journal: World neurosurgery

Published: July 25, 2019

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Journal: European journal of human genetics : EJHG

Published: May 12, 2017

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.

Journal: Prenatal diagnosis

Published: February 02, 2017

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.

Journal: Human mutation

Published: June 15, 2016

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

Journal: Human mutation

Published: January 06, 2016

Atypical Fryns syndrome: clinical, radiological and pathological findings.

Journal: The Turkish journal of pediatrics

Published: May 16, 2014

Fryns syndrome with vertebral defects: a novel association in a Mexican infant.

Journal: Genetic counseling (Geneva, Switzerland)

Published: May 03, 2014

Prenatal and postnatal findings in five cases of Fryns syndrome.

Journal: Prenatal diagnosis

Published: April 24, 2014

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.

Journal: American journal of medical genetics. Part A

Published: February 01, 2013

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

Lessons learned from 40 novel PIGA patients and a review of the literature.

Lessons learned from 40 novel PIGA patients and a review of the literature.

Jarcho-Levin Syndrome and Concomitant Carotid Glomus Tumor: First Reported Case.

Jarcho-Levin Syndrome and Concomitant Carotid Glomus Tumor: First Reported Case.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.

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

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

Atypical Fryns syndrome: clinical, radiological and pathological findings.

Atypical Fryns syndrome: clinical, radiological and pathological findings.

Fryns syndrome with vertebral defects: a novel association in a Mexican infant.

Fryns syndrome with vertebral defects: a novel association in a Mexican infant.

Prenatal and postnatal findings in five cases of Fryns syndrome.

Prenatal and postnatal findings in five cases of Fryns syndrome.

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.