[PDF] Cause Autosomal-Recessive Cutis Laxa
EJK Hoischen, SY Wong, M van Scherpenzeel…
… was unremarkable. Her brother (PII:2) presented with a very similar phenotype. He
was born with cutis laxa, scoliosis, laryngomalacia, entropion, bilateral cryptorchidism,
bilateral inguinal hernias and bilateral pneumothorax …
was born with cutis laxa, scoliosis, laryngomalacia, entropion, bilateral cryptorchidism,
bilateral inguinal hernias and bilateral pneumothorax …
[PDF] Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome
M Balasubramanian, J Willoughby, AE Fry, A Weber…
Page 1. University of Dundee Delineating the phenotypic spectrum of Bainbridge-Ropers
syndrome Balasubramanian, M.; Willoughby, J.; Fry, AE; Weber, A.; Firth, HV; Deshpande, C.;
Berg, JN; Chandler, K.; Metcalfe, KA; Lam, W.; Pilz, D.; Tomkins, S.; DDD Study …
syndrome Balasubramanian, M.; Willoughby, J.; Fry, AE; Weber, A.; Firth, HV; Deshpande, C.;
Berg, JN; Chandler, K.; Metcalfe, KA; Lam, W.; Pilz, D.; Tomkins, S.; DDD Study …
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