TY  - GEN
AU  - Cheng,S W
AU  - Luk,Ho-Ming
AU  - Chu,YoYo W Y
AU  - Tung,Yuet-Ling
AU  - Kwan,Elanie Yin-Wah
AU  - Lo,Ivan Fai-Man
AU  - Chung,Brian Hon-Yin
TI  - A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia
SN  - 1878-0849
PY  - 2018///0827
KW  - ADAMTS Proteins
KW  - genetics
KW  - Bone Diseases, Developmental
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Fibrillin-1
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Limb Deformities, Congenital
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Weill-Marchesani Syndrome
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1016/j.ejmg.2017.11.018
ER  -