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A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper‐IgD syndrome‐like phenotype.

Autor: Jairaman, Amit, Badiger, Vaishnavi Ashok, Raj, Spoorthy, Nair, Karthik Vijay, Balan, Suma, Narayanan, Dhanya Lakshmi

Publikováno v: Clinical Genetics; Mar2024, Vol. 105 Issue 3, p302-307, 6p

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Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.

Autor: Kakar, Naseebullah^1,2 (AUTHOR), Mascarenhas, Selinda³ (AUTHOR), Ali, Asmat⁴ (AUTHOR), Azmatullah⁵ (AUTHOR), Ijlal Haider, Syed M. (AUTHOR), Badiger, Vaishnavi Ashok (AUTHOR), Ghofrani, Mobina Shadman (AUTHOR), Kruse, Nathalie (AUTHOR), Hashmi, Sohana Nadeem (AUTHOR), Pozojevic, Jelena (AUTHOR), Balachandran, Saranya (AUTHOR), Toft, Mathias^6,7 (AUTHOR), Malik, Sajid (AUTHOR), Händler, Kristian (AUTHOR), Fatima, Ambrin (AUTHOR), Iqbal, Zafar (AUTHOR), Shukla, Anju (AUTHOR), Spielmann, Malte¹ (AUTHOR) malte.spielmann@uksh.de, Radhakrishnan, Periyasamy³ (AUTHOR) p.radhakrishnan@manipal.edu

Publikováno v: Human Genetics. Dec2024, p1-11.