Clinical Variability in a Noonan Syndrome Family with a Homozygous < em > PTPN11 < /em > Gene Variant in Two Individuals

CONCLUSION: A variant that had been described before in the literature was detected in the PTPN11 gene and this variant was homozygous in two patients. To the best of our knowledge, these are the first homozygous PTPN11 case reports in the literature, coming from two related consanguineous families.PMID:37847107 | DOI:10.4274/jcrpe.galenos.2023.2023-5-16

Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 17, 2023 Category: Endocrinology Authors: Ruken Y ıldırım Edip Unal Şervan Özalkak Ak çahan Akalın Ay ça Aykut Nevzat Y ılmaz Source Type: research