Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary...

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Veröffentlicht in:J Pediatr Genet
Hauptverfasser: Vendramini-Pittoli, Siulan, Candido-Souza, Rosana Maria, Quiezi, Rodrigo Gonçalves, Zechi-Ceide, Roseli Maria, Kokitsu-Nakata, Nancy Mizue, Jehee, Fernanda Sarquis, Ribeiro-Bicudo, Lucilene Arilho, FitzPatrick, David R., Guion-Almeida, Maria Leine, Richieri-Costa, Antonio
Format: Artigo
Sprache:Inglês
Veröffentlicht: Georg Thieme Verlag KG 2020
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7396461/
https://ncbi.nlm.nih.gov/pubmed/32765930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-3402047
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