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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 3, p. 1181, doi. 10.1007/s10803-022-05853-z
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Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 342, doi. 10.1159/000446476
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High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2599, doi. 10.1002/ajmg.a.62892
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