The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome.
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| Title: | The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome. |
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| Authors: | Bachetti T; IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Bagnasco S; IRCCS Istituto Giannina Gaslini, Genoa, Italy., Santamaria G; IRCCS Istituto Giannina Gaslini, Genoa, Italy., Bedeschi MF; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Menni F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Catalano I; Pediatric Palliative Care Service, VIDAS ODV, Milan, Italy., Spaccini L; Ospedale dei Bambini Vittore Buzzi, Milan, Italy., Cavigioli F; Ospedale dei Bambini Vittore Buzzi, Milan, Italy., Morandi F; Italian Association for Congenital Central Hypoventilation Syndrome (A.I.S.I.C.C.), Firenze, Italy., Ceccherini I; IRCCS Istituto Giannina Gaslini, Genoa, Italy. |
| Source: | Frontiers in physiology [Front Physiol] 2025 Sep 22; Vol. 16, pp. 1616994. Date of Electronic Publication: 2025 Sep 22 (Print Publication: 2025). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101549006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-042X (Print) Linking ISSN: 1664042X NLM ISO Abbreviation: Front Physiol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-042X |
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| DOI: | 10.3389/fphys.2025.1616994 |
