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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations
Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM(*)603780) and ESCO2 (MIM(*)609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abno...
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| 出版年: | Front Pediatr |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6546804/ https://ncbi.nlm.nih.gov/pubmed/31192177 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00210 |
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