Temple syndroom: symptomen en kenmerken bij kinderen

Temple syndrome is a rare genetic disorder that is caused by mutations in paternal chromosome 14 or by maternal UPD(14).

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Temple syndrome is a rare genetic condition characterised by pre- and postnatal growth restriction, hypotonia, early onset of puberty, variable developmental ...

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by AF Juriaans · 2022 · Cited by 20 — Temple syndrome (TS14) is a rare condition caused by the abnormal expression of genes in the imprinted 14q32 region. The first patient with TS14 ...

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Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and motor delay, feeding problems early in ...

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A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay.

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by M Kagami · 2017 · Cited by 135 — Temple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region.

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Temple syndrome is a rare genetic syndrome that presents with a variety of symptoms. These symptoms include growth delay, issues with feeding, motor ...

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A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces.

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A rare genetic disease characterized by pre-and postnatal growth delay feeding difficulties muscular hypotonia motor developmental delay (with or without ...

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by AF Juriaans · 2022 · Cited by 20 — Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an ...

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