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UnknownRare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
Not available
S-EPMC5400673 | biostudies-literature
UnknownNovel mutations in GJA1 cause oculodentodigital syndrome.
Not available
S-EPMC2588666 | biostudies-literature
UnknownBalancing neural crest cell intrinsic processes with those of the microenvironment in Tcof1 haploinsufficient mice enables complete enteric nervous system formation.
Not available
S-EPMC3313795 | biostudies-literature
UnknownA mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta.
Not available
S-EPMC2838535 | biostudies-literature
UnknownAmelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.
Not available
S-EPMC5411757 | biostudies-literature
Unknownp63 exerts spatio-temporal control of palatal epithelial cell fate to prevent cleft palate.
Not available
S-EPMC5484519 | biostudies-literature
UnknownDisruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
Not available
S-EPMC3990159 | biostudies-literature
UnknownDual Exosite-binding Inhibitors of Insulin-degrading Enzyme Challenge Its Role as the Primary Mediator of Insulin Clearance in Vivo.
Not available
S-EPMC4536412 | biostudies-literature
UnknownMutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
Not available
S-EPMC3511980 | biostudies-literature
UnknownSpecifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Not available
S-EPMC6188664 | biostudies-literature
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