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Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience
(Georg Thieme Verlag Kg, 2021)
Microcephaly is a dysmorphic feature characterized by small head size more than two standard deviations below the mean for age, sex, and ethnicity. There are several etiological factors ranging from environmental toxins ...
An interesting case: 30-year-old male patient with myotonic dystrophy typeI has got normal CTG repeats sequence in the DMPK gene, but it does not comply with its clinical features
(SPRINGERNATURE, 2020)
No Abstract Available
A family with mutation in DMD that inherited from gonadal mosaic mother
(SPRINGERNATURE, 2022)
No Abstract Available