Search Results - "Shieh, J. T.C."

X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome by Sullivan, C.T., Christian, S.L., Shieh, J.T.C., Metry, D., Blei, F., Krol, A., Drolet, B.A., Frieden, I.J., Dobyns, W.B., Siegel, D.H.

“…Segmental hemangiomas of the head and neck can be associated with multiple congenital anomalies in the disorder known as PHACE syndrome (OMIM 606519)…”
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339 NABLUS MASK-LIKE FACIAL SYNDROME IS CAUSED BY DELETION IN 8q21-8q22 DETECTED BY ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZTION by Shieh, J. T.C., Aradhya, S., Manning, M. A., Cherry, A. M., Dallapiccola, B., Hoyme, H. E.

“…In 2000 Teebi described a 4-year-old boy with an unusual facial appearance and called the distinct phenotype “Nablus mask-like facial syndrome.”…”
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