Pages that link to "Q52109508"
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The following pages link to Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability (Q52109508):
Displaying 14 items.
- Solitary median maxillary central incisor (SMMCI) syndrome (Q21203053) (← links)
- Functional analysis of mutations in TGIF associated with holoprosencephaly (Q24681018) (← links)
- Congenital malformations of the brain. 2: Malformations of the corpus callosum and holoprocencephalies (Q30884455) (← links)
- Single median maxillary central incisor: new data and mutation review. (Q31116560) (← links)
- The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes (Q34329523) (← links)
- Palate morphogenesis: current understanding and future directions (Q35111595) (← links)
- Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions (Q35842931) (← links)
- Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephaly (Q36248007) (← links)
- The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis (Q37411003) (← links)
- Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature (Q37985874) (← links)
- Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up (Q38115213) (← links)
- Unique organization of the frontonasal ectodermal zone in birds and mammals. (Q41812833) (← links)
- Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings (Q42509637) (← links)
- Comparative Analysis of Mutational Profile of Sonic hedgehog Gene in Gallbladder Cancer (Q51213437) (← links)