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Hledat publikace relevantní k dotazu "Say-Barber-Biesecker-Young-Simpson syndrome"
Say-Barber-Biesecker-Young-Simpson syndrome
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A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
2015 |
1. lékařská fakulta, 2. lékařská fakulta