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It is similar to Weaver syndrome.
Mutations in the EZH2 gene cause Weaver syndrome.
NSD1 is a transcription coregulator protein associated with Sotos syndrome and Weaver syndrome.
Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features.
Diagnosis of Perlman syndrome also overlap with other disorders associated with Wilms tumor namely Sotos syndrome and Weaver syndrome.
Weaver-Smith Syndrome WSS Overgrowth syndrome None Weaver Syndrome is characterized by rapid growth.
Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features.