Temple Syndrome: Clinical Findings, Body Composition ...
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 ...
Domein: pmc.ncbi.nlm.nih.gov
Link: https://pmc.ncbi.nlm.nih.gov/articles/PMC9656486/
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Bài viết liên quan: Temple syndroom
Temple syndrome
Temple syndrome is a rare genetic disorder that is caused by mutations in paternal chromosome 14 or by maternal UPD(14).
Domein: en.wikipedia.org Bekijk meer
Temple syndrome — Knowledge Hub
Temple syndrome is a rare genetic condition characterised by pre- and postnatal growth restriction, hypotonia, early onset of puberty, variable developmental ...
Temple Syndrome: Clinical Findings, Body Composition ...
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 ...
Domein: pmc.ncbi.nlm.nih.gov Bekijk meer
Entry - #616222 - TEMPLE SYNDROME
Temple syndrome is a short stature disorder of imprinting. The cardinal features are low birth weight, hypotonia and motor delay, feeding problems early in ...
Domein: omim.org Bekijk meer
Temple syndrome
A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay.
Domein: orpha.net Bekijk meer
Temple syndrome: comprehensive molecular and clinical ...
by M Kagami · 2017 · Cited by 135 — Temple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region.
Domein: pmc.ncbi.nlm.nih.gov Bekijk meer
Temple syndrome: Key Symptoms, Causes, and Diagnosis
Temple syndrome is a rare genetic syndrome that presents with a variety of symptoms. These symptoms include growth delay, issues with feeding, motor ...
Domein: fdna.com Bekijk meer
Temple-Baraitser syndrome
A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces.
Domein: rarediseases.org Bekijk meer
Temple syndrome
A rare genetic disease characterized by pre-and postnatal growth delay feeding difficulties muscular hypotonia motor developmental delay (with or without ...
Domein: globalgenes.org Bekijk meer
Temple Syndrome: Clinical Findings, Body Composition ...
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 ...
Domein: mdpi.com Bekijk meer
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