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Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation.

Clinical dysmorphology - 1 Oct 2023

Gowda Vykuntaraju K, Bylappa Arun Y, Srinivasan Varunvenkat M, Manohar Varsha, Pandey Himani

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PMID: 37646740
DOI: 10.1097/MCD.0000000000000472

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Related research

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Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation.PMID 37646740Read ↗

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity.Semantic proximity Read ↗

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.Semantic proximity Read ↗

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.Semantic proximity Read ↗

A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome.Semantic proximity Read ↗

Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.Semantic proximity Read ↗

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome.Semantic proximity Read ↗

Perampanel Effectiveness in Treating ROGDI-Related Kohlschütter- Tönz Syndrome: First Reported Case in China and Literature ReviewSemantic proximity Read ↗

The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome.Semantic proximity Read ↗

Two novel mutations in KIND1 in Indian patients with Kindler syndrome.Semantic proximity Read ↗

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.Semantic proximity Read ↗

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.Semantic proximity Read ↗

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.Semantic proximity Read ↗

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