Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy
| Autor: | Peter J. Winningham, Drew Cratsenberg, Lois J. Starr |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Chromosome Aberrations
Chromosomes Human X Chromosomal Proteins Non-Histone business.industry MEDLINE Cell Cycle Proteins General Medicine Bioinformatics medicine.disease Pathology and Forensic Medicine Text mining Holoprosencephaly Child Preschool Pediatrics Perinatology and Child Health Humans Medicine Female Chromosome Deletion Anatomy business Genetics (clinical) Sequence Deletion |
| Zdroj: | Clinical Dysmorphology. 30:159-163 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0000000000000367 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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