Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2014-04, Vol.164A (4), p.1075-1078
Main Authors: García, Mónica Martínez, Velez, Camilo, Fenollar-Cortés, María, Bustamante, Ana, Lorda-Sanchez, Isabel, Soriano-Guillén, Leandro, Trujillo-Tiebas, María-José
Format: Article
Language:English
Subjects:
Anion Transport Proteins - genetics
Behavior
cardiofaciocutaneous syndrome
Child, Preschool
Chromosomes, Human, Pair 5
Costello syndrome
genotype-phenotype correlation analyses
Homozygote
Humans
LEOPARD syndrome
Noonan syndrome
Noonan-like syndrome with loose anagen hair
Osteochondrodysplasias - genetics
RAS/MAPK cascade
Uniparental Disomy - genetics
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36378