Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations-Reference-Cited by-同舟云学术

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

Published:2024-07-12 Issue:9 Volume:32 Page:1086-1094
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Vanbelleghem Eva^ORCID,Van Damme Tim^ORCID,Beyens Aude,Symoens Sofie,Claes Kathleen^ORCID,De Backer Julie^ORCID,Meerschaut Ilse^ORCID,Vanommeslaeghe Floris,Delanghe Sigurd E.,van den Ende Jenneke,Beyltjens Tessi,Scimone Eleanor R.,Lindsay Mark E.,Schimmenti Lisa A.,Hinze Alicia M.^ORCID,Dunn Emily^ORCID,Gomez-Ospina Natalia^ORCID,Vandernoot Isabelle,Delguste Thomas,Coppens Sandra,Cormier-Daire Valérie^ORCID,Tartaglia Marco^ORCID,Garavelli Livia^ORCID,Shieh Joseph^ORCID,Demir Şenol^ORCID,Arslan Ateş Esra^ORCID,Zenker Martin^ORCID,Rohanizadegan Mersedeh,Rivera-Cruz Greysha,Douzgou Sofia^ORCID, ,Smith Justin,Simkins Jessica,Clark Don,Karatsinides Stephanie,Taylor Sandy,White Ines,Schultz Patti,Wears Kate,Holder Levi,Young Kathy,Lin Angela E.,Callewaert Bert^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01664-1.pdf

Reference40 articles.

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3. Lindor NM, Kasperbauer JL, Hoffman AD, Parisi JE, Wang H, Warman M. Confirmation of existence of a new syndrome: LAPS syndrome. Am J Med Genet. 2002;109:93–9.

4. Oldenburg MS, Frisch CD, Lindor NM, Edell ES, Kasperbauer JL, O’Brien EK. Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions. Am J Otolaryngol. 2015;36:636–41.

5. Lindor NM, Gunawardena SR, Thibodeau SN. Mutations of SMAD4 account for both LAPS and Myhre syndromes. Am J Med Genet A. 2012;158a:1520–1.

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