Phenotype‐Genotype Correlations in ABCA3 Patients—The RespiRare Cohort

Fleury, Manon; Delestrain, Céline; Hadchouel, Alice; Mazenq, Julie; Benhamida, Myriam; Bernard, Anne; Borie, Raphaël; Brouard, Jacques; Corvol, Harriet; Cros, Pierrick; Delacourt, Christophe; Desroziers, Tifenn; Dubus, J.‐C.; Egron, Carole; Epaud, Ralph; Fayon, Michaël; Forgeron, Aude; Giovannini‐Chami, Lisa; Marguet, Christophe; Masson‐Rouchaud, Alexandra; Petat, Hortense; Renoux, M; Roditis, Léa; Thumerelle, C.; Vigier, C.; Coulomb L’Herminé, Aurore; Ducou Le Pointe, Hubert; Fanen, Pascale; Fletcher, Camille; Siléo, Chiara; Berteloot, Laureline; Louvrier, Camille; de Becdelièvre, Alix; Legendre, Marie; Nathan, Nadia

doi:10.1002/ppul.71324

Public

Phenotype‐Genotype Correlations in ABCA3 Patients—The RespiRare Cohort

Published in Pediatric Pulmonology • Oct 1, 2025

Authors:

Manon Fleury

Céline Delestrain

Alice Hadchouel

Abstract

BACKGROUND: ATP-binding cassette transporter A3 (ABCA3) deficiency is one of the most severe causes of childhood interstitial lung diseases (chILD). This study aims to report the RespiRare ABCA3 cohort and to establish phenotype-genotype correlations. METHODS: Phenotypic and genotypic data of patien...

Subject

Medicine

Cohort

Presentation (obstetrics)

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