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Paper Details

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Am J Med Genet A
23
2015
1203delATACAC, Aarskog syndromes, BBB, Calponin, H401del, Opitz G, Opitz G/BBB syndrome, Patient, SPECC1L, Teebi hypertelorism, Teebi hypertelorism syndrome, Teebi hypertelorism-like syndrome, aortic root dilation, autosomal dominant disorder, c, c.1198_1203delATACAC, c.1260G>C, craniosynostosis, giant umbilical hernia, hypertelorism, oblique facial clefting, p.E420D, p.I400_H401del variant, patient, patients, ptosis, sagittal and coronal craniosynostosis, shawl scrotum, small hands, and feet
Author NameAffiliation
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia
Margaret HarrChildren's Hospital of Philadelphia
Cecilia E KimCenter for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonThe Perelman School of Medicine, University of Pennsylvania
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonThe Perelman School of Medicine, University of Pennsylvania
Elaine H ZackaiChildren's Hospital of Philadelphia
Elaine H ZackaiThe Perelman School of Medicine, University of Pennsylvania
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