Article

KBG syndrome: report and follow-up on three unrelated patients observed at different ages

2024-06-07

Abstract excerpt

<title>Abstract</title> <p>Background KBG syndrome (MIM #148050) is a rare genetic disease, showing an autosomal recessive pattern of inheritance. It was first described by Herrmann et al. in 1975 in three affected families, whose initial letters gave origin to the acronym. A peculiar <italic>facies</italic> including triangular face, synophrys, macrodontia of the upper central incisors, as well as short stature...

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Literature Corpus work: 1ce50398-6c57-5b4a-ae1f-515e1d16ced9
DOI: 10.21203/rs.3.rs-4307035/v1

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