Associated Papers
Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.
Guyodo H et al.
Clinical and Experimental Dental Research, 2024
38558491 (PubMed )
Supplement: CRE2-10-e861-s001.pdf
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Bruel AL et al.
Clinical Genetics, 2018
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