Mexican patient with Ellis‐van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion
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Published in Molecular genetics & genomic medicine (01.05.2024)
Published in Molecular genetics & genomic medicine (01.05.2024)
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Published in Bone Reports (01.06.2024)
Published in Bone Reports (01.06.2024)
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Journal Article
IFITM5-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report
Martínez-Montoya, Valentina, Fonseca-Sánchez, Miguel Angel, Fabian-Morales, Gerardo, Vega-Gamas, Ramiro, Queipo-García, Gloria Eugenia, León-Madero, Luis Felipe, Sánchez-Sánchez, Luz María
Published in Bone reports (01.06.2024)
Published in Bone reports (01.06.2024)
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