טוען...
Cyclopia (Synophthalmia) in Smith-Lemli-Opitz Syndrome – First Reported Case and Consideration of Mechanism
Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia). Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2–3 toe syndactyly. The diagnosis of SLOS was conf...
שמור ב:
| Main Authors: | , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2010
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2815131/ https://ncbi.nlm.nih.gov/pubmed/20104611 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30241 |
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