Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review
Titel:
Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review
Auteur:
Sabanathan, Saraswathy Gulhane, Deepti Mankad, Kshitij Davison, James Ong, Min Tsui Phadke, Rahul Robinson, Robert Spiller, Michael Wakeling, Emma Ramdas, Sithara Brady, Angela F Balasubramanian, Meena Munot, Pinki