Very short stature without skeletal dysplasia

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Cornelia de Lange syndrome and differential diagnosis [62 genes]

Ref.: S-202211838

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Rubinstein-Taybi syndrome and differential diagnosis [23 genes]

Ref.: S-202211844

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SHORT syndrome and differential diagnosis [14 genes]

Ref.: S-202314101

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Silver-Russell syndrome. Uniparental disomy chromosome 11p15 by MS-MLPA

Ref.: S-202008035

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Silver-Russell syndrome. Uniparental disomy of chromosome 7 by MS-MLPA

Ref.: S-202009942

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Temple syndrome. Uniparental disomy of chromosome 14 by MS-MLPA

Ref.: S-202212081