Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome
Abstract Background Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of growth hormone treatment existed. Methods We ascertained 12 short sta...
Main Authors: | , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-06-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13023-019-1111-8 |