Supplementary Figure 2: Pedigrees with SNX14 mutations and additional representative MRIs and clinical photographs. | Nature Genetics

Supplementary Figure 2: Pedigrees with SNX14 mutations and additional representative MRIs and clinical photographs.

From: Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Supplementary Figure 2

(a) Pedigrees of each of the 12 families harboring homozygous truncating mutations in SNX14. Double bar, consanguinity; filled symbol, affected; diagonal line, deceased. The location of each mutation is depicted. (b) MRIs and facial photographs from families 1902, 3087, ABD, 468, HMF and 1971 showing neuroradiographic and facies consistent with those of the other SNX14-mutated patients. Consent to publish images of the subjects was obtained.

Back to article page