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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 3, p. 197, doi. 10.1038/ng.757
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- Article
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
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- Cleft Palate Craniofacial Journal, 2015, v. 52, n. 4, p. 411, doi. 10.1597/13-233
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- Article
Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 12, p. 2482, doi. 10.1007/s12031-021-01873-z
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- Article
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3043, doi. 10.1002/ajmg.a.37858
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- Article