Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation

-related disorder is a known cause of autosomal recessive microcephaly and chorioretinopathy, which was originally recognized as a new syndrome based on unique ocular findings on a phenotypic overlap of microcephalic primordial short stature. Since the elucidation of its molecular mechanism, limited...

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Veröffentlicht in:	Molecular syndromology 2024-12, Vol.15 (6), p.503-516
Hauptverfasser:	Pal, Swasti, Kulshrestha, Samarth, Garg, Neha, Gupta, Deepti, Gupta, Nandita Dimri, Puri, Ratna Dua
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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