Key result
Two novel RMRP mutations identified in a patient with dwarfism, aplastic anaemia, and immune deficiency.
Case Report (n=1)
The report identifies novel RMRP gene mutations in a patient presenting with short-limbed dwarfism, aplastic anaemia, and immune deficiency, expanding the phenotypic spectrum of cartilage-hair hypoplasia.
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Broadens differential for short-limb dwarfism with anemia and immunodeficiency; extends RMRP spectrum but remains hypothesis-generating.
Taco W. Kuijpers (2003) conducted a case report in Short-limbed dwarfism, aplastic anaemia, and combined immune deficiency (n=1). RMRP gene mutations was evaluated. Two novel mutations in the RMRP gene were identified in a female patient presenting with short-limb dwarfism, late-onset aplastic anaemia, and combined immune deficiency.
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