. Author manuscript; available in PMC: 2011 Oct 1.

Published in final edited form as: Hum Mutat. 2010 Oct;31(10):1142–1154. doi: 10.1002/humu.21328

Table 10.

PHS patients with mutations

Individual	Mutation	Findings and Symptoms							Additional Findings
Individual	Mutation	Mesoaxial Polydactyly	Postaxial Polydactyly	Preaxial Polydactyly	Cutaneous Syndactyly	Craniofacial Features	Bifid Epiglottis	MRI Findings	Additional Findings
PH21	c.2685C>G, p.Y895X	HB	HB		HB, FB			HH	Bilateral renal hypoplasia

HB, hands bilateral; FB, foot bilateral; HH, hypothalamic hamartoma. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence, according to journal guidelines (www.hgvs.org/mutnomen). The initiation codon is codon 1.