Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome
Microcephaly-capillary malformation syndrome (MIC-CAP) and Mowat-Wilson syndrome (MWS) are both rare hereditary diseases with several overlapping symptoms. We here report a Chinese patient simultaneously affected by MIC-CAP and MWS, presenting with moderate anaemia because of repeated, unilateral re...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-12-01
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| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844023101976 |