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Confirmation of the newly described 1p36.13-1p36.12 microdeletion syndrome by finding of a 2,2 Mb deletion in the critical region in a Czech two generation family with a very similar phenotype, but… Click to show full abstract
Confirmation of the newly described 1p36.13-1p36.12 microdeletion syndrome by finding of a 2,2 Mb deletion in the critical region in a Czech two generation family with a very similar phenotype, but in addition also polyneuropathy of lower limbs.
Keywords:
microdeletion syndrome;
1p36 microdeletion;
family;
1p36 1p36
Journal Title: Clinical Genetics
Year Published: 2022
Link to full text (if available)
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Journal Title: Clinical Genetics
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!