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anodontia/proline

Sábháiltear an nasc chuig an gearrthaisce
AiltTrialacha cliniciúlaPaitinní
3 torthaí

Novel MSX1 mutation in a family with autosomal-dominant hypodontia of second premolars and third molars.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
OBJECTIVE Tooth agenesis is the most common developmental anomaly of the human dentition, with aetiology involving both genetic and environmental factors. The aim of the study was to search for casual mutations underlying hypodontia in a family with agenesis of the second premolars and third

Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
We describe the molecular analysis of three families with hypodontia involving primarily molar teeth and report two novel mutational mechanisms. Linkage analysis of two large families revealed that the hypodontia was linked to the PAX9 locus. These two families revealed missense mutations consisting

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
BACKGROUND AEC (ankyloblepharon-ectodermal defects-clefting) syndrome is an autosomal dominant ectodermal dysplasia disorder caused by mutations in the transcription factor p63. Clinically, the skin is dry and often fragile; other features can include partial eyelid fusion (ankyloblepharon),
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An bunachar luibheanna míochaine is iomláine le tacaíocht ón eolaíocht

  • Oibreacha i 55 teanga
  • Leigheasanna luibhe le tacaíocht ón eolaíocht
  • Aitheantas luibheanna de réir íomhá
  • Léarscáil GPS idirghníomhach - clibeáil luibheanna ar an láthair (ag teacht go luath)
  • Léigh foilseacháin eolaíochta a bhaineann le do chuardach
  • Cuardaigh luibheanna míochaine de réir a n-éifeachtaí
  • Eagraigh do chuid spéiseanna agus fanacht suas chun dáta leis an taighde nuachta, trialacha cliniciúla agus paitinní

Clóscríobh symptom nó galar agus léigh faoi luibheanna a d’fhéadfadh cabhrú, luibh a chlóscríobh agus galair agus comharthaí a úsáidtear ina choinne a fheiceáil.
* Tá an fhaisnéis uile bunaithe ar thaighde eolaíoch foilsithe

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