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Whereas most patients, including P3 and P4 in the current study, had a very similar and recognizable phenotype at birth, the siblings from family 1, and to a lesser extent P5, lacked most of the typical facial features at birth and in infancy, and they did not initially display pronounced skin fragility

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[DOI] [PMC free article] [PubMed] [Google Scholar] 59.Mollica J.P., Dutka T.L., Merry T.L., Lamboley C.R., McConell G.K., McKenna M.J., Murphy R.M., Lamb G.D

doi: 10.1007/s10753-023-01951-x 47 Ramos-RemusCDorazco-BarraganGAceves-AvilaFJAlcaraz-LopezFFuentes-RamirezFMichel-DiazJet al

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