Results 21 to 30 of about 262 (109)

Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome. [PDF]

Genes (Basel), 2022
Kantaputra PN, Angkurawaranon S, Khwanngern K, Ngamphiw C, Intachai W, Adisornkanj P, Tongsima S, Olsen B, Sonsuwan N, Katanyuwong K.   +9 more
europepmc   +1 more source

A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report. [PDF]

Medicine (Baltimore), 2020
Shi Q, Dai R, Wang R, Jing J, Yu X, Liu R, Liu Y.   +6 more
europepmc   +1 more source

Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis. [PDF]

Eur J Orthod, 2022
Choi TM, Kramer GJC, Goos JAC, Mathijssen IMJ, Wolvius EB, Ongkosuwito EM.   +5 more
europepmc   +1 more source

Tracheal cartilaginous sleeve diagnosed on ultrasound in a child with Pfeiffer syndrome. [PDF]

Int J Pediatr Otorhinolaryngol, 2020
Loy KA, Lam AS, Otjen JP, Dahl JP.
europepmc   +1 more source

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. [PDF]

J Med Genet, 2023
Pagnamenta AT, Yu J, Evans J, Twiss P, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC.   +11 more
europepmc   +1 more source

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report. [PDF]

Appl Clin Genet, 2020
Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H.   +5 more
europepmc   +1 more source

Two Cases of Acrocephalosyndactylia [PDF]

, 1943
香山, 聖進, 片岡, 司馬男
core  

Differential diagnosis of syndromic craniosynostosis: a case series. [PDF]

Arch Gynecol Obstet, 2022
Casteleyn T, Casteleyn T, Horn D, Henrich W, Verlohren S.   +4 more
europepmc   +1 more source

Dental approach for Apert syndrome in children: a systematic review. [PDF]

Med Oral Patol Oral Cir Bucal, 2017
López-Estudillo AS, Rosales-Bérber MA, Ruiz-Rodríguez S, Pozos-Guillén A, Noyola-Frías MÁ, Garrocho-Rangel A.   +5 more
europepmc   +1 more source

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review. [PDF]

Genes (Basel), 2021
Kozma K, Bembea M, Jurca CM, Ioana M, Streață I, Şoşoi SŞ, Pirvu A, Petchesi CD, Szilágyi A, Sava CN, Jurca A, Ujfalusi A, Szűcs Z, Szakszon K.   +13 more
europepmc   +1 more source