Abstract
HOOFT syndrome, or familial hypolipidaemia, comprises postnatal growth retardation, an erythematous eruption on the face and limbs, abnormalities of the nails, hair and teeth and inconsistent retinal changes. Affected individuals have a characteristic biochemical profile. Inheritance is autosomal recessive.
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References
Francois J, De Blond R (1963) Dégénérescence tapeto-retinienne associée à un syndrome hypolipidemique. Acta Genet Med Gemellol 12:145–157
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© 1997 Springer-Verlag London Limited
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Beighton, P., Beighton, G. (1997). HOOFT, Carlos M.. In: The Person Behind the Syndrome. Springer, London. https://doi.org/10.1007/978-1-4471-0925-9_42
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DOI: https://doi.org/10.1007/978-1-4471-0925-9_42
Publisher Name: Springer, London
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