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Supporting Information

The following Supporting information is available for this article:

Fig. S1. (a) Pedigree of family 1. Filled symbol represents the affected individual. (b) Sequence analysis of noggin (NOG). Arrow indicates a G to T change at nucleotide 551 in patient #991. This substitution causes codon 184 to change from TGC (cysteine: C) to TTC (phenylalanine: F).

Fig. S2. (a) Pedigree of family 2. Filled symbols represent the affected individuals. (b) Sequence analysis of noggin (NOG). Arrow indicates a T to A change at nucleotide 463 in patients #3925 and #3926. This substitution causes codon 155 to change from TGC (cysteine: C) to AGC (serine: S).

Fig. S3. (a) Pedigree of family 3. Filled symbols represent affected symptoms (conductive hearing impairment, hyperopia, and finger malformation. (b) Sequence analysis of noggin (NOG). Arrow indicates a C to A change at nucleotide 645 in patients #4106 and #4351. These two patients had a heterozygous C215X mutation. This nonsense mutation (C215X) leads to a truncated protein.

Additional Supporting information may be found in the online version of this article.

FilenameFormatSizeDescription
CGE_1831_sm_fs1.pdf63KSupporting info item
CGE_1831_sm_fs2.pdf60KSupporting info item
CGE_1831_sm_fs3.pdf76KSupporting info item

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