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Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hoelker, Irmgard, Hebbar, Malavika, Shulda, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O'Driscoll, Mary, Loeys, Bart 
ORCID: 0000-0003-3703-9518 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2016).
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am. J. Hum. Genet., 99 (5).
S. 1206 - 1217.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Moosa, Shahida ORCID: 0000-0002-4463-3067, Loeys, Bart, Altmueller, Janine, Mortier, Geert, Nuernberg, Peter, Li, Yun, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393
(2017).
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
Clin. Genet., 92 (3).
S. 342 - 344.
HOBOKEN:
WILEY.
ISSN 1399-0004