Biomedical subjects

Kalpana Gowrishankar

Publications and source records attributed to Kalpana Gowrishankar.

2 recordsLinked to original sources

PubMed2006

Novel mitochondrial DNA mutations implicated in Noonan syndrome.

We report a case of Noonan syndrome with compound mutations in a sarcomeric contractile protein gene and several novel mutations in mitochondrial genes. Our case forms the first report, which emphasizes the importance of mtDNA mutations in Noonan syndrome and extends the scope for mitochondrial related syndromes.

Carrier Proteins↗

PubMed2004

Fibrodysplasia ossificans progressiva.

A 2-year-old boy presented with low-grade fever and multiple progressive painful swellings over upper dorsal trunk and supraclavicular region with progressive stiffening of skin for the last 2 months. Examination revealed dysmorphic face, proximally placed thumb and bilateral hallux valgus. Hence, a diagnosis of Fibrodysplasia Ossificans Progressiva was entertained.

Fever↗