TY  - GEN
AU  - Freitas,Érika L
AU  - Gribble,Susan M
AU  - Simioni,Milena
AU  - Vieira,Társis P
AU  - Prigmore,Elena
AU  - Krepischi,Ana C
AU  - Rosenberg,Carla
AU  - Pearson,Peter L
AU  - Melo,Débora G
AU  - Gil-da-Silva-Lopes,Vera Lúcia
TI  - A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state
SN  - 1878-0849
PY  - 2013///0218
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Child
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 2
KW  - Craniofacial Abnormalities
KW  - Facies
KW  - Female
KW  - Haplotypes
KW  - Humans
KW  - Hypertelorism
KW  - diagnosis
KW  - Mosaicism
KW  - Muscular Atrophy
KW  - Pedigree
KW  - Phenotype
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2012.06.015
ER  -