
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
Author(s) -
LatorrePellicer Ana,
Ascaso Ángela,
LuciaCampos Cristina,
GilSalvador Marta,
Arnedo María,
Antoñanzas Rebeca,
AyerzaCasas Ariadna,
MarcosAlcalde Iñigo,
GómezPuertas Paulino,
Ramos Feliciano J.,
Pié Juan,
Puisac Beatriz
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1826
Subject(s) - cornelia de lange syndrome , context (archaeology) , medicine , phenotype , girl , pediatrics , genetics , biology , gene , paleontology