Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study-Reference-Cited by-同舟云学术

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

Published:2023-01 Issue:1 Volume:25 Page:37-48
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Loong Lucy,Tardivo Agostina,Knaus Alexej,Hashim Mona,Pagnamenta Alistair T.,Alt Kerstin,Böhrer-Rabel Helena,Caro-Llopis Alfonso,Cole Trevor,Distelmaier Felix,Edery Patrick,Ferreira Carlos R.,Jezela-Stanek Aleksandra,Kerr Bronwyn,Kluger Gerhard,Krawitz Peter M.,Kuhn Marius,Lemke Johannes R.,Lesca Gaetan,Lynch Sally Ann,Martinez Francisco,Maxton Caroline,Mierzewska Hanna,Monfort Sandra,Nicolai Joost,Orellana Carmen,Pal Deb K.,Płoski Rafał,Quarrell Oliver W.,Rosello Monica,Rydzanicz Małgorzata,Sabir Ataf,Śmigiel Robert,Stegmann Alexander P.A.,Stewart Helen,Stumpel Constance,Szczepanik Elżbieta,Tzschach Andreas,Wolfe Lynne,Taylor Jenny C.,Murakami Yoshiko,Kinoshita Taroh,Bayat Allan,Kini Usha^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference38 articles.

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4. A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family;Khayat;Am J Med Genet A,2016

5. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN;Maydan;J Med Genet,2011

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