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

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

doi:10.1016/j.gim.2022.09.007

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

Lucy Loong
, Agostina Tardivo
, Alexej Knaus
, Mona Hashim
, Alistair T Pagnamenta
, Kerstin Alt
, Helena Böhrer-Rabel
, Alfonso Caro-Llopis
, Trevor Cole
, Felix Distelmaier
, Patrick Edery
, Carlos R Ferreira
, Aleksandra Jezela-Stanek
, Bronwyn Kerr
, Gerhard Kluger (Co-Autor/-in)
, Peter M Krawitz
, Marius Kuhn
, Johannes R Lemke
, Gaetan Lesca
, Sally Ann Lynch

Francisco Martinez, Caroline Maxton, Hanna Mierzewska, Sandra Monfort, Joost Nicolai, Carmen Orellana, Deb K Pal, Rafał Płoski, Oliver W Quarrell, Monica Rosello, Małgorzata Rydzanicz, Ataf Sabir, Robert Śmigiel, Alexander P A Stegmann, Helen Stewart, Constance Stumpel, Elżbieta Szczepanik, Andreas Tzschach, Lynne Wolfe, Jenny C Taylor, Yoshiko Murakami, Taroh Kinoshita, Allan Bayat, Usha Kini

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

9 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	37-48
Fachzeitschrift	GENETICS IN MEDICINE
Jahrgang	25
Ausgabenummer	1
DOIs	https://doi.org/10.1016/j.gim.2022.09.007
Publikationsstatus	Veröffentlicht - 2023

Zugriff auf Dokument

10.1016/j.gim.2022.09.007

Dieses zitieren

Loong, L., Tardivo, A., Knaus, A., Hashim, M., Pagnamenta, A. T., Alt, K., Böhrer-Rabel, H., Caro-Llopis, A., Cole, T., Distelmaier, F., Edery, P., Ferreira, C. R., Jezela-Stanek, A., Kerr, B., Kluger, G., Krawitz, P. M., Kuhn, M., Lemke, J. R., Lesca, G., ... Kini, U. (2023). Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. GENETICS IN MEDICINE , 25(1), 37-48. https://doi.org/10.1016/j.gim.2022.09.007

Loong, Lucy ; Tardivo, Agostina ; Knaus, Alexej et al. / Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. in: GENETICS IN MEDICINE 2023 ; Jahrgang 25, Nr. 1. S. 37-48.

@article{8ab991e52e5a4ebda9644af2deded022,

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

keywords = "PRENATAL-DIAGNOSIS, MUTATION",

author = "Lucy Loong and Agostina Tardivo and Alexej Knaus and Mona Hashim and Pagnamenta, \{Alistair T\} and Kerstin Alt and Helena B{\"o}hrer-Rabel and Alfonso Caro-Llopis and Trevor Cole and Felix Distelmaier and Patrick Edery and Ferreira, \{Carlos R\} and Aleksandra Jezela-Stanek and Bronwyn Kerr and Gerhard Kluger and Krawitz, \{Peter M\} and Marius Kuhn and Lemke, \{Johannes R\} and Gaetan Lesca and Lynch, \{Sally Ann\} and Francisco Martinez and Caroline Maxton and Hanna Mierzewska and Sandra Monfort and Joost Nicolai and Carmen Orellana and Pal, \{Deb K\} and Rafa{\l} P{\l}oski and Quarrell, \{Oliver W\} and Monica Rosello and Ma{\l}gorzata Rydzanicz and Ataf Sabir and Robert {\'S}migiel and Stegmann, \{Alexander P A\} and Helen Stewart and Constance Stumpel and El{\.z}bieta Szczepanik and Andreas Tzschach and Lynne Wolfe and Taylor, \{Jenny C\} and Yoshiko Murakami and Taroh Kinoshita and Allan Bayat and Usha Kini",

note = "Anmerkung: Affiliation wurde vergessen!",

year = "2023",

doi = "10.1016/j.gim.2022.09.007",

language = "English",

volume = "25",

pages = "37--48",

journal = "GENETICS IN MEDICINE ",

issn = "1098-3600",

number = "1",

}

Loong, L, Tardivo, A, Knaus, A, Hashim, M, Pagnamenta, AT, Alt, K, Böhrer-Rabel, H, Caro-Llopis, A, Cole, T, Distelmaier, F, Edery, P, Ferreira, CR, Jezela-Stanek, A, Kerr, B, Kluger, G, Krawitz, PM, Kuhn, M, Lemke, JR, Lesca, G, Lynch, SA, Martinez, F, Maxton, C, Mierzewska, H, Monfort, S, Nicolai, J, Orellana, C, Pal, DK, Płoski, R, Quarrell, OW, Rosello, M, Rydzanicz, M, Sabir, A, Śmigiel, R, Stegmann, APA, Stewart, H, Stumpel, C, Szczepanik, E, Tzschach, A, Wolfe, L, Taylor, JC, Murakami, Y, Kinoshita, T, Bayat, A & Kini, U 2023, 'Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.', GENETICS IN MEDICINE , Jg. 25, Nr. 1, S. 37-48. https://doi.org/10.1016/j.gim.2022.09.007

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. / Loong, Lucy; Tardivo, Agostina; Knaus, Alexej et al.
in: GENETICS IN MEDICINE , Jahrgang 25, Nr. 1, 2023, S. 37-48.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

TY - JOUR

T1 - Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

AU - Loong, Lucy

AU - Tardivo, Agostina

AU - Knaus, Alexej

AU - Hashim, Mona

AU - Pagnamenta, Alistair T

AU - Alt, Kerstin

AU - Böhrer-Rabel, Helena

AU - Caro-Llopis, Alfonso

AU - Cole, Trevor

AU - Distelmaier, Felix

AU - Edery, Patrick

AU - Ferreira, Carlos R

AU - Jezela-Stanek, Aleksandra

AU - Kerr, Bronwyn

AU - Kluger, Gerhard

AU - Krawitz, Peter M

AU - Kuhn, Marius

AU - Lemke, Johannes R

AU - Lesca, Gaetan

AU - Lynch, Sally Ann

AU - Martinez, Francisco

AU - Maxton, Caroline

AU - Mierzewska, Hanna

AU - Monfort, Sandra

AU - Nicolai, Joost

AU - Orellana, Carmen

AU - Pal, Deb K

AU - Płoski, Rafał

AU - Quarrell, Oliver W

AU - Rosello, Monica

AU - Rydzanicz, Małgorzata

AU - Sabir, Ataf

AU - Śmigiel, Robert

AU - Stegmann, Alexander P A

AU - Stewart, Helen

AU - Stumpel, Constance

AU - Szczepanik, Elżbieta

AU - Tzschach, Andreas

AU - Wolfe, Lynne

AU - Taylor, Jenny C

AU - Murakami, Yoshiko

AU - Kinoshita, Taroh

AU - Bayat, Allan

AU - Kini, Usha

N1 - Anmerkung: Affiliation wurde vergessen!

PY - 2023

Y1 - 2023

KW - PRENATAL-DIAGNOSIS

KW - MUTATION

U2 - 10.1016/j.gim.2022.09.007

DO - 10.1016/j.gim.2022.09.007

M3 - Original Article

C2 - 36322149

SN - 1098-3600

VL - 25

SP - 37

EP - 48

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

IS - 1

ER -

Loong L, Tardivo A, Knaus A, Hashim M, Pagnamenta AT, Alt K et al. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. GENETICS IN MEDICINE . 2023;25(1):37-48. doi: 10.1016/j.gim.2022.09.007