Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis
Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant...
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Format: | Book |
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Hindawi Limited,
2022-01-01T00:00:00Z.
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