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Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.

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Title: Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Authors: Irving M; Guy's and St Thomas' NHS Trust, London, UK. melitairving@nhs.net., Greco E; Women's Health Research Unit, Wolfson Institute of Population Health, Queen Mary University London, London, UK., Cocca A; Guy's and St Thomas' NHS Trust, London, UK., Dauber A; Children's National Hospital, Washington, DC, USA., Jorge AAL; Genetic Endocrinology Unit (LIM25), Endocrinology Division, Faculdade de Medicina da, Universidade de São Paulo (HC-FMUSP), São Paulo, 01246-903, Brazil., Fredwall S; National Centre for Rare Diseases, Unit Sunnaas & Oslo University Hospital Rikshospitalet, Oslo, Norway., Patterson A; Johns Hopkins University, Baltimore, MD, USA., Llerena J Jr; Instituto Nacional Fernandes Figueira, Rio de Janeiro, Brazil., Ozono K; ISEIKAI International General Hospital, Osaka, Japan., Santos R; Guy's and St Thomas' NHS Trust, London, UK., Kelly D; BridgeBio Pharma, San Francisco, CA, USA., Muslimova E; BridgeBio Pharma, San Francisco, CA, USA., Reddi T; BridgeBio Pharma, San Francisco, CA, USA., Shediac R; BridgeBio Pharma, San Francisco, CA, USA., Savarirayan R; Murdoch Children's Research Institute, Melbourne, Australia., Sutton VR; Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA., Hoover-Fong J; Johns Hopkins University, Baltimore, MD, USA., Cheung M; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Source: Advances in therapy [Adv Ther] 2026 May; Vol. 43 (5), pp. 2018-2033. Date of Electronic Publication: 2026 Feb 28.
Publication Type: Journal Article
Journal Info: Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Irving+M%22">Irving M</searchLink>; Guy's and St Thomas' NHS Trust, London, UK. melitairving@nhs.net.<br /><searchLink fieldCode="AU" term="%22Greco+E%22">Greco E</searchLink>; Women's Health Research Unit, Wolfson Institute of Population Health, Queen Mary University London, London, UK.<br /><searchLink fieldCode="AU" term="%22Cocca+A%22">Cocca A</searchLink>; Guy's and St Thomas' NHS Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Dauber+A%22">Dauber A</searchLink>; Children's National Hospital, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Jorge+AAL%22">Jorge AAL</searchLink>; Genetic Endocrinology Unit (LIM25), Endocrinology Division, Faculdade de Medicina da, Universidade de São Paulo (HC-FMUSP), São Paulo, 01246-903, Brazil.<br /><searchLink fieldCode="AU" term="%22Fredwall+S%22">Fredwall S</searchLink>; National Centre for Rare Diseases, Unit Sunnaas & Oslo University Hospital Rikshospitalet, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Patterson+A%22">Patterson A</searchLink>; Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Llerena+J+Jr%22">Llerena J Jr</searchLink>; Instituto Nacional Fernandes Figueira, Rio de Janeiro, Brazil.<br /><searchLink fieldCode="AU" term="%22Ozono+K%22">Ozono K</searchLink>; ISEIKAI International General Hospital, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Santos+R%22">Santos R</searchLink>; Guy's and St Thomas' NHS Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Kelly+D%22">Kelly D</searchLink>; BridgeBio Pharma, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Muslimova+E%22">Muslimova E</searchLink>; BridgeBio Pharma, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Reddi+T%22">Reddi T</searchLink>; BridgeBio Pharma, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Shediac+R%22">Shediac R</searchLink>; BridgeBio Pharma, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Savarirayan+R%22">Savarirayan R</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Hoover-Fong+J%22">Hoover-Fong J</searchLink>; Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Cheung+M%22">Cheung M</searchLink>; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Health+Communications+Inc%22">Health Communications Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8611864 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1865-8652 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220741238X%22">0741238X </searchLink><i>NLM ISO Abbreviation: </i>Adv Ther <i>Subsets: </i>MEDLINE
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