Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome

M Marta Gil-Salvador L Laura Trujillano C Cristina Lucia-Campos J Julia Del Rincón P Pilar Pamplona M María Arnedo B Beatriz Puisac Íñigo Marcos-Alcalde P Paulino Gómez-Puertas F Feliciano J. Ramos J Juan Pié A Ana Latorre-Pellicer

Article Details

Volume / Issue Vol. 15, Issue 1
Published July 01, 2025
ISSN 2045-2322
Publisher Nature Portfolio

Journal Info

Scientific Reports

Nature Portfolio

ISSN: 2045-2322 Open Access Life Sciences

Authors (12)

M

Marta Gil-Salvador

L

Laura Trujillano

C

Cristina Lucia-Campos

J

Julia Del Rincón

P

Pilar Pamplona

M

María Arnedo

B

Beatriz Puisac

Íñigo Marcos-Alcalde

P

Paulino Gómez-Puertas

F

Feliciano J. Ramos

J

Juan Pié

A

Ana Latorre-Pellicer