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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Bachetti+T%22">Bachetti T</searchLink>; IRCCS Ospedale Policlinico San Martino, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Bagnasco+S%22">Bagnasco S</searchLink>; IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Santamaria+G%22">Santamaria G</searchLink>; IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Bedeschi+MF%22">Bedeschi MF</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Menni+F%22">Menni F</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Catalano+I%22">Catalano I</searchLink>; Pediatric Palliative Care Service, VIDAS ODV, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Spaccini+L%22">Spaccini L</searchLink>; Ospedale dei Bambini Vittore Buzzi, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Cavigioli+F%22">Cavigioli F</searchLink>; Ospedale dei Bambini Vittore Buzzi, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Morandi+F%22">Morandi F</searchLink>; Italian Association for Congenital Central Hypoventilation Syndrome (A.I.S.I.C.C.), Firenze, Italy.<br /><searchLink fieldCode="AU" term="%22Ceccherini+I%22">Ceccherini I</searchLink>; IRCCS Istituto Giannina Gaslini, Genoa, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101549006%22">Frontiers in physiology</searchLink> [Front Physiol] 2025 Sep 22; Vol. 16, pp. 1616994. <i>Date of Electronic Publication: </i>2025 Sep 22 (<i>Print Publication: </i>2025).
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              Text: 2025 Sep 22
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