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Publications by P. D TURNPENNY

The First Description of Lethal Pterygium Syndrome With Facial Clefting (Bartsocas-Papas Syndrome) in 1600

Journal of Medical Genetics
Genetics
2000English

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Bartsocas-Papas Syndrome

2020English

Lethal Multiple Pterygium Syndrome, the Extreme End of the RYR1 Spectrum

BMC Musculoskeletal Disorders
RheumatologyOrthopedicsSports Medicine
2016English

Autosomal Dominant Popliteal Pterygium Syndrome

2020English

Escobar Syndrome (Multiple Pterygium Syndrome) Associated With Osteogenesis Imperfecta: A Case Report

ORTHOPAEDICS, TRAUMATOLOGY and PROSTHETICS
2017English

662 Image Syndrome: First North African Description

Archives of Disease in Childhood
Child HealthPediatricsPerinatology
2012English

Van Der Woude Syndrome - A Syndromic Form of Orofacial Clefting

Journal of Clinical and Experimental Dentistry
Dentistry
2012English

663 First Seizure as Late Presentation of Velo-Cardio-Facial Syndrome

Archives of Disease in Childhood
Child HealthPediatricsPerinatology
2012English

Nuclear Agenesis: Mobius' Syndrome: The Congenital Facial Diplegia Syndrome

Archives of Disease in Childhood
Child HealthPediatricsPerinatology
1955English

Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome

2020English

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