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A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother: Case report
RATIONALE: The purpose of this report was to explore how to manage the fetus of Simpson-Golabi-Behmel syndrome type 1 (SGBS1) and to provide a definite diagnosis to guide the following genetic counseling for the pregnancy. PATIENT CONCERNS: A 24-year-old women, gravida 1, para 0, was 172 cm tall wit...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9276221/ https://www.ncbi.nlm.nih.gov/pubmed/35482990 http://dx.doi.org/10.1097/MD.0000000000029222 |