Total: 1 |
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PMID (PMCID) | ||
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16007608 |
OTHER | |
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. | ||
Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D. Am J Med Genet A. 2005;136A(4):390-4. |
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It also suggests that PHS should be included in the differential diagnosis of antenatally ascertained acromesomelic limb shortening and bowing with fibular hypoplasia particularly in the presence of polysyndactyly. |