Case Reports
doi: 10.1002/ajmg.1320280423.
A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency
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- PMID: 3688035
- DOI: 10.1002/ajmg.1320280423
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Case Reports
A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency
Am J Med Genet.
1987 Dec.
Abstract
We describe a brother and sister with mental retardation, short stature, delayed puberty, spherocytic anemia, and an abnormal facial appearance. The similarities to a child with aldolase A deficiency are discussed.
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