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Sunken eyes

This Guide provides basic information about hypermobile Ehlers-Danlos syndrome (hEDS), to help patients better understand the condition and what can be done to treat it

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Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated -butyrobetaine [PMID: 41022783] Laboratory literature summary: Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated -butyrobetaine