Two novel variants and follow-up findings in four children with Bloom syndrome from two families
Clin Dysmorphol
.
2022 Jan 1;31(1):31-35.
doi: 10.1097/MCD.0000000000000391.
Authors
Busra Kasap
1
,
Filiz Guclu-Geyik
2
,
Dilek Uludag Alkaya
1
,
Güven Cetin
3
,
Beyhan Tuysuz
1
Affiliations
1
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty.
2
Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul.
3
Department of Hematology-Oncology, Bezmialem Boundation University, Medical Faculty, Istanbul, Turkey.
PMID:
34538859
DOI:
10.1097/MCD.0000000000000391
No abstract available
MeSH terms
Bloom Syndrome*
Child
Follow-Up Studies
Humans