Phenotypic variations in X chromosome mutations: Two case reports
Turner syndrome (TS) affects 1 in 2500 females. Monosomy X is the most common etiology, classically presenting with hypoestrogenemia and short stature. We present two cases of partial X chromosome deletions that do not reflect the typical phenotype of TS.Patient 1 presented at age 17 with primary am...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Elsevier,
2019-01-01T00:00:00Z.
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |