ABSTRACT S outh A sian I ndians represent a sixth of the world's population and are a
racially, geographically, and genetically diverse people. Their unique anthropological …

Germline mosaicism in autosomal recessive disorders is considered a rare disease
mechanism with important consequences for diagnosis and patient counseling. In this …

India is the sixth largest country of the world in size and with a population 1.21 billion
(http://www. censusindia. gov. in) has the distinction of being the second most populous …

Nonsyndromic oligodontia is a rare congenital anomaly. Mutations in the ectodysplasin A
receptor (EDAR) gene are the primary cause of hypohidrotic ectodermal dysplasia but are …

Background Hypohidrotic ectodermal dysplasia (HED) is the most common form of
ectodermal dysplasia and is mainly associated with mutations in the EDA, EDAR, and …

Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused
by mutations in the ASAH1 gene. In the largest ever study, we identified and characterized …

Dear Editor: Ectodermal dysplasias (ED) encompass nearly 200 different genetic conditions
identified by the lack, or dysgenesis, of at least two ectodermal derivatives, such as hair …

Abstract Maple Syrup Urine Disease is a rare metabolic disorder caused by reduced/absent
activity of the branched chain α‐Ketoacid dehydrogenase enzyme complex. Mutations in …

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by mutational
inactivation of a developmental pathway responsible for generation of tissues of ectodermal …

Hypohidrotic ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse
hair, oligodontia and reduced sweating.[1] It is caused by mutation in the ectodysplasin A …