Results 81 to 90 of about 790 (163)

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. [PDF]

Am J Hum Genet, 2015
Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM.   +14 more
europepmc   +1 more source

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. [PDF]

Am J Hum Genet, 2012
Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D, FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM.   +27 more
europepmc   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source

Signalling Pathways and Mechanical Forces Interact in Craniofacial Development and Homeostasis. [PDF]

Int Dent J
Chen Y, Feng X, Wu H, Duan Y, Han Y, Yu M.   +5 more
europepmc   +1 more source

Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team. [PDF]

Cureus
Monyei MO, Edena ME, Olodiama F, Ekene OA.   +3 more
europepmc   +1 more source

Sindrome de Nager: Presentacion de caso

Revista de Ciencias Médicas de Pinar del Río
Elayne E Santana Hernández
doaj  

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 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

Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms. [PDF]

Front Cell Dev Biol
Griffin C.
europepmc   +1 more source

Imaging of Treacher Collins syndrome: A case report. [PDF]

Radiol Case Rep
Khatiwada A, Thapa B, Pandit R, Bhandari D, Kc S.   +4 more
europepmc   +1 more source