American journal of medical genetics. Part A
Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.
Vykuntaraju K Gowda, Amaresh Roy, B Disha, Periyasamy Govindaraj, Varunvenkat M Srinivasan
Published: 202610.1002/ajmga.70067
Abstract
Biallelic variants in the STAMBP gene are known to cause Microcephaly-capillary malformation syndrome (MICCAP syndrome). Here we report an 18-month-old female with a novel splice site variant, c.376-1G>A in intron-4, with the phenotype of a patient w…
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