Yap, Patrick http://orcid.org/0000-0002-4372-0580
Riley, Lisa G.
Kakadia, Purvi M.
Bohlander, Stefan K. http://orcid.org/0000-0002-2202-9088
Curran, Ben
Rahimi, Meer Jacob http://orcid.org/0000-0003-3396-9611
Alburaiky, Salam
Hayes, Ian
Oppermann, Henry
Print, Cristin
Cooper, Sandra T. http://orcid.org/0000-0002-7314-5097
Le Quesne Stabej, Polona http://orcid.org/0000-0002-9436-5857
Article History
Received: 2 February 2023
Revised: 22 August 2023
Accepted: 10 October 2023
First Online: 6 November 2023
Competing interests
: STC is director of Frontier Genomics Pty Ltd (Australia). STC currently receives no consultancy fees or other remuneration for this role. Frontier Genomics Pty Ltd (Australia) has no existing financial relationships that will benefit from publication of these data. All other contributing authors declare no conflict of interest.
: The family was enrolled in a research-based proband-parent trio exome sequencing project for undiagnosed rare syndromes (approved by the Health and Disability Ethics Committee of New Zealand HDEC 18/CEN/62). Written informed consent for publication of images was obtained from the study participants.