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Richard, Gabriele

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Item Type	Name
Concept	Lod Score
Academic Article	Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
Academic Article	Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Academic Article	A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

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