Cargando…
New microdeletion and microduplication syndromes: A comprehensive review
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In...
Autores principales: | Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983590/ https://www.ncbi.nlm.nih.gov/pubmed/24764755 |
Ejemplares similares
-
Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus
por: Nieves-Moreno, Maria, et al.
Publicado: (2021) -
Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier
por: Delicado, Alicia, et al.
Publicado: (2014) -
Simpson-Golabi-Behmel syndrome types I and II
por: Tenorio, Jair, et al.
Publicado: (2014) -
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
por: Sandoval-Talamantes, Ana Karen, et al.
Publicado: (2023) -
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
por: Fernández, Luis, et al.
Publicado: (2009)