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holoprosencephaly/tyrosine

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NakalaMajaribio ya klinikiHati miliki
2 matokeo

Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly.

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Ingia / Ingia
Holoprosencephaly (HPE) is caused by the impaired cleavage of the embryonic prosencephalon, and in the severest type, alobar HPE, the normally bilateral diencephalon and basal ganglia are fused and tend to incorporate into the upper brainstem. The detailed neuropathological features of HPE remain to

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

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Ingia / Ingia
BACKGROUND Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of HPE and ectrodactyly have been
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