Rahul Pramanik

Learn More
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by palmoplantar keratoderma, periorificial hyperkeratotic lesions and alopecia. Constriction of digits, onychodystrophy and pruritus may also occur. Recently, pathogenic heterozygous mutations in TRPV3 were identified, with most cases showing de novo dominant inheritance. We present the(More)
In information retrieval, keyword-based queries often fail to capture actual information need, especially when the need is very specific and particular. Using natural language, however, a user can clearly tell what she wants (positive part) and what she does not (negative parts). We propose techniques for automatic removal of negative parts and query(More)
Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome (OMIM 308205) is a rare X-linked genetic disorder. Mutations in MBTPS2 underlie IFAP syndrome, with 19 different mutations reported to date. Keratosis follicularis spinulosa decalvans (KFSD) is an allelic disorder that results from a single recurrent mutation, p.Asn508Ser. We report a case(More)
  • 1