Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.
Servicio de Genética del Hospital Fundación Jiménez Díaz de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Mónica Martínez
MM
García
Camilo
C
Velez
María
M
Fenollar-Cortés
Ana
A
Bustamante
Isabel
I
Lorda-Sanchez
Leandro
L
Soriano-Guillén
María-José
MJ
Trujillo-Tiebas
D027321:Anion Transport Proteins / Q000235:genetics; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5; D006720:Homozygote; D006801:Humans; D010009:Osteochondrodysplasias / Q000235:genetics*; D000076988:Sulfate Transporters; D024182:Uniparental Disomy / Q000235:genetics*
D027321:Anion Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters
Behavior; Costello syndrome; LEOPARD syndrome; Noonan syndrome; Noonan-like syndrome with loose anagen hair; RAS/MAPK cascade; cardiofaciocutaneous syndrome; genotype-phenotype correlation analyses