brachydactyly type A1

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brachydactyly type A1

An autosomal dominant OMIM 112500 condition characterised by brachydactyly of the middle phalanges, including short or absent phalanges, short metacarpal bones, hypoplastic or absent ulna and accessory ossification centres.

Molecular pathology
Mutations in IHH (located on chromosome 2q35) and BDA1B (located on 5p13.3-p13.2).
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Phylogenetic trees represent inferred historical relationships, and our CO I dataset, when rooted with BDA1, reveals a countercurrent topology of source (Bermuda) and founder (Florida) populations.
The central mitochondrial genotype, BDA1, is a maximum of two nucleotide substitutions removed from all of the other members of the western Atlantic Lasaea clade.
In contrast, the starlike allelic topology of the Bermuda samples is characteristic of a population founded by one ancestral type (presumably BDA1) that has experienced a phase of rapid growth, a process associated with lowered stochastic elimination of novel and rare lineages (Avise et al., 1984; Slatkin and Hudson, 1991).