Bloom's syndrome is inherited as an autosomal recessive disease, typically manifesting itself as: unusually small size at birth but otherwise a normal degree of maturation; shortness of stature after birth, only rarely reaching five feet; redness of the skin of the face, mainly the bridge of the nose and the adjoining upper cheek areas, the lower eyelids, and the lower lip; and increased numbers of respiratory tract and ear infections, some of which are life-threatening.
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Summarizes features typical of patients with Bloom's syndrome.
Sheryl has this autosomal recessive genetic condition and provides information on the disorder and the practical problems facing "bloomies".
Details of current research into the genetics of Bloom syndrome.
Details of current research into the genetics of Bloom syndrome.
Sheryl has this autosomal recessive genetic condition and provides information on the disorder and the practical problems facing "bloomies".
Summarizes features typical of patients with Bloom's syndrome.
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March 20, 2018 at 9:45:07 UTC
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- Recently edited by shedragon
- Recently edited by shedragon