Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring-patients affected by developm...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2019-11-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |