Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of silver-russell syndrome like phenotypes

HIGHLIGHTS

• who: Naomi Baba from the (UNIVERSITY) have published the research work: Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes, in the Journal: (JOURNAL)
• what: The authors report two patients with SRS features in which molecular karyotyping revealed microdeletions in 1q21 and 8q12.1 respectively.

SUMMARY

Due to a lack of specificity of these symptoms, and clinical heterogeneity, SRS is often discussed being a differential diagnosis and is genetically tested in patients with growth retardation. Consequently, the detection rate for the currently known . . .

 



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