Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunode fi ciency disease characterized by frequent infec- tions, hypopigmentation, progressive neurologic deterioration

Fanconi anemia (FA) is a rare autosomal recessive inherited bone marrow failure syndrome, characterized by increased chromosomal fragility, and generally associated with multi-

Differential diagnosis can be considered with: Apert syndrome (a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anoma- lies, and severe

Gyrate atrophy (GA) of the choroid and retina is a rare autoso mal recessive disorder characterized by progressive metabolic retinal and choroidal degeneration due to a

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as

The discussion about the extension of theoretical and practical quasiconformal mapping techniques in the quaternion analysis setting, has originated many questions. Yet a large

Chanarin-Dorfman syndrome is a rare autosomal recessive disease characterized by the presence of intracellular lipid droplets in the cells of many different tissues, in particular

This is the irst report to describe a Brazilian child with molecular diagnosis of Shwachman-Diamond Syndrome, a rare autosomal recessive disorder characterized by exocrine