Twins with <scp>PEX7</scp> related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder <scp>9B</scp>
Suzena Masih(Sanjay Gandhi Post Graduate Institute of Medical Sciences), Shubha R. Phadke(Sanjay Gandhi Post Graduate Institute of Medical Sciences), Amita Moirangthem(Sanjay Gandhi Post Graduate Institute of Medical Sciences)
Cited by 3
Related Papers
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
|Journal of Human Genetics|2019|74
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians
|Human Mutation|2021|51
Socio-demographic Profile and Economic Burden of Treatment of Transfusion Dependent Thalassemia
|The Indian Journal of Pediatrics|2017|37
Carrier frequency of <scp><i>SMN1</i></scp>‐related spinal muscular atrophy in north Indian population: The need for population based screening program
|American Journal of Medical Genetics Part A|2020|24
<i>SMARCE1</i>, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases
|American Journal of Medical Genetics Part A|2016|23