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- W4253232787 abstract "H Syndrome is a rare genodermatosis of autosomal recessive inheritance characterised by the presence of cutaneous and systemic manifestations. This syndrome is due to a mutation in the SLC9A3 gene encoding the hENTt3 transport protein. Still little known and rare, its diagnosis is difficult. Nearly 100 cases of H syndrome have been described, the majority of which were from Arab countries. The possible occurrence of other undiagnosed or misdiagnosed cases of syndrome H is highly probable due to the common features shared with other syndromes. We report two new cases of H syndrome from Morocco. One of them presents a unique association with celiac disease which has not been previously reported. The dermatologist’s main goal is to diagnose the condition and enable appropriate follow-up and genetic counselling." @default.
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- W4253232787 date "2022-11-01" @default.
- W4253232787 modified "2023-10-04" @default.
- W4253232787 title "H Syndrome: Two new morrocan cases" @default.
- W4253232787 doi "https://doi.org/10.7241/ourd.2022s2.6" @default.
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