All individuals with variants in gene SMOC1

2 entries on 1 page. Showing entries 1 - 2.
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00285921 Fam18PatII2/FamPat1 PubMed: Timberlake 2017, PubMed: Timberlake 2018 2-generation family, 1 affected, unaffected parents F no United States - - 0 - - CRS see paper; ..., sagittal craniosynostosis, coronal craniosynostosis, recurrence of CS within two months initial surgery requiring second operatio 1 2 Johan den Dunnen
00382087 12 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - ACHM2 microphthalmia, anophthalmia, and coloboma; MIM, 206920 2 1 LOVD
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