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Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.

Oluwakemi Lokulo-SodipeLisa BallardJenny ChildHazel M InskipChristopher D ByrneMiho IshidaGudrun E MooreEmma L WakelingAngela FenwickDeborah J G MackayJustin Huw DaviesI Karen Temple
Published in: Journal of medical genetics (2020)
Historical treatment regimens for SRS were not sufficient for normal adult growth and further research to optimise treatment is justified. Clinical childhood diagnostic scoring systems are not applicable to patients presenting in adulthood and SRS diagnosis requires molecular confirmation. Metabolic ill-health warrants further investigation but SRS is compatible with a normal quality of life including normal fertility in many cases.
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