Aayush Gupta Yugal Sharma Kirti Deo Shamsudheen Vellarikkal Rijith Jayarajan Vishal Dixit Ankit Verma Vinod Scaria Sridhar Sivasubbu
10.12688/f1000research.6779.1
F1000Res
2015 Jul 31;4:446.
lamellar ichthyosis tgm1 whole exome sequencing chr22q12 genodermatosis
CC BY
https://pubmed.ncbi.nlm.nih.gov/26594337/
PMC4648218
26594337
Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis
2015