Results 111 to 120 of about 2,768 (208)

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report. [PDF]

BMC Pediatr
Zhu H, Du M, Zhu S, Huang Y, Zeng L, Kuai Y, Xiong F, Pang Y.   +7 more
europepmc   +1 more source

A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome. [PDF]

Indian J Ophthalmol
Premkumar S, Baskaran S, Muralikrishnan N, Sundar SS, Periasamy S, Puthuran GV.   +5 more
europepmc   +1 more source

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis. [PDF]

Mol Syndromol
Aglamis Senel O, Kilic E.
europepmc   +1 more source

A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 more
europepmc   +1 more source

Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens. [PDF]

Biology (Basel)
Behunova J, Rehder H, Dobsak A, Kircher SG, Boer LL, Mueller AA, Patsch JM, Winter E, Oostra RJ, Piehslinger E, Reich KM.   +10 more
europepmc   +1 more source

Spontaneous Multiple Knotting of a Feeding Tube Urinary Catheter in an Infant with Crouzon Syndrome: A Case Report. [PDF]

Reports (MDPI)
Gkialas K, Papakonstantinou A, Deligiannis D, Kaltsas A, Mitsos P.   +4 more
europepmc   +1 more source

A Lifelong Battle With Crouzon Syndrome: A Detailed Case Report of Extensive Craniofacial Surgeries and Complex Psychiatric Care. [PDF]

Cureus
Gillela ST, Jaiswal P, Hollowell S, Nepal M, Leontieva L.   +4 more
europepmc   +1 more source

First Case Report of Agnathia-Otocephaly Complex Reported in Niger. [PDF]

Clin Case Rep
Diaouga HS, Dogbe YZKO, Garba RM, Nayama M.   +3 more
europepmc   +1 more source

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy. [PDF]

Orphanet J Rare Dis
Li C, Huang W, Gan Z, Ling Y, Qiu L, Xiao Y, Xiong F, Yang F.   +7 more
europepmc   +1 more source

Pharyngeal Arches, Chapter 3: Craniofacial Syndromes. [PDF]

J Craniofac Surg
Episalla NC, Zhang A, Mantilla-Rivas E, Shur NE, Oh HS, Barrera MC, Oh AK, Sentosa J, Boyajian MJ, Rogers GF.   +9 more
europepmc   +1 more source