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Page 1
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.
Eur J Hum Genet. 2023 Oct 4. doi: 10.1038/s41431-023-01472-z. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 37789084
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.
Rezende RC, Menezes de Andrade NL, Branco Dantas NC, de Polli Cellin L, Victorino Krepischi AC, Lerario AM, de Lima Jorge AA.
Rezende RC, et al. Among authors: de polli cellin l.
J Pediatr. 2024 Feb;265:113841. doi: 10.1016/j.jpeds.2023.113841. Epub 2023 Nov 22.
J Pediatr. 2024.
PMID: 37995928
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