Genomics of rare genetic diseases—experiences from India

S Sivasubbu, V Scaria - Human genomics, 2019 - Springer
Home to a culturally heterogeneous population, India is also a melting pot of genetic
diversity. The population architecture characterized by multiple endogamous groups with …

understanding rare genetic diseases in low resource regions like Jammu and Kashmir–India

A Angural, A Spolia, A Mahajan, V Verma… - Frontiers in …, 2020 - frontiersin.org
Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a
general population compared to other diseases. Limited clinical information and a lack of …

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India

MJ Chiramel, L Mathew, R Athirayath… - Pediatric …, 2022 - Wiley Online Library
Background Autosomal recessive congenital ichthyosis (ARCI) refers to non‐syndromic
ichthyosis caused by mutations in one of the 13 identified genes. There are limited data on …

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature

W Li, KE Oberlin, TE Wilson… - Pediatric …, 2020 - Wiley Online Library
Bathing suit ichthyosis (BSI) is a subtype of autosomal recessive congenital ichthyosis
(ARCI) characterized by the development of large platelike scales mainly limited to the trunk …

Cisto ductal de glândula lacrimal em paciente com eritrodermia ictiosiforme congênita

AR Almeida, ED Feijó - Revista Brasileira de Oftalmologia, 2017 - SciELO Brasil
A ictiose lamelar é uma doença congênita de herança autossômica recessiva que se
caracteriza clinicamente por descamação de toda a superfície corporal devido …

Ductal cyst of lacrimal gland in patient with congenital ichthyosiform erythroderma

AR Almeida, ED Feijó - Revista Brasileira de Oftalmologia, 2017 - SciELO Brasil
Lamellar ichthyosis is a congenital disease autosomal recessive which is characterized
clinically by peeling of all the body surface due hyperkeratosis mucocutaneous that can …

[引用][C] Personal Genomics In Clinical Medicine: It Is Not In The Future Anymore

V Scaria, S Sivasubbu - Clinical Proceedings (ISSN 2229-5011), 2016