Open AccessRobinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred
Author(s) -
R. Roy,
Vibha Jain,
Dhiren Gupta,
Renu Saxena,
Samarth Kulshreshtha,
Vedam Lakshmi Ramprasad,
I. C. Verma,
Ratna Dua Puri
Publication year - 2020
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000505506
Subject(s) - proband , exome sequencing , short stature , brachydactyly , haploinsufficiency , facial dysmorphism , genetics , phenotype , medicine , genetic heterogeneity , exome , sanger sequencing , biology , pediatrics , mutation , gene