TY  - JOUR
AU  - Nevado, Julian
AU  - Bel Fenellos, María Cristina
AU  - Sandoval-Talamantes, Ana Karen
AU  - Hernández Estrada, Adolfo
AU  - Biencinto López, Chantal-María
AU  - Martínez-Fernández, María Luisa
AU  - Barrúz, Pilar
AU  - Santos-Simarro, Fernando
AU  - Mori-Álvarez, María Ángeles
AU  - Mansilla, Elena
AU  - García-Santiago, Fé Amalia
AU  - Valcorba, Isabel
AU  - Sáenz-Rico De Santiago, María Belén
AU  - Martínez-Frías, María Luisa
AU  - Lapunzina, Pablo
AU  - Sáenz-Rico De Santiago, María Belén
AU  - Julian Nevado Blanco
AU  - Katalin Komlosi, Medical Center – University of Freiburg, Germany
PY  - 2021
DO  - 10.3389/fgene.2021.645595
SN  - 1664-8021
UR  - https://hdl.handle.net/20.500.14352/100143
T2  - Frontiers in Genetics
AB  - Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri duChat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental disorder of genetic cause. So far,...
LA  - spa
PB  - Front. Genet., Sec. Human and Medical Genomics
KW  - 5p-minus syndrome
KW  - Intellectual disabilities
KW  - Cri du chat
KW  - Subtelomeric deletion
KW  - Behavior problems
TI  - Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
TY  - journal article
VL  - 12
ER  -