Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
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Pfeiffer syndromeFibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implicationsPaternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndromeGuideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on CraniosynostosisQuantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.The impact of molecular genetics on oral health paradigms.Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review.A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene.A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders.A case of Pfeiffer syndromeThe Fgfr2 W290R mouse model of Crouzon syndrome.Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.Pfeiffer syndrome.Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.Diffusion Tensor Imaging and Fiber Tractography in Children with Craniosynostosis Syndromes.Ophthalmic considerations in patients with Pfeiffer syndrome.[Developmental aspects of oral language in craniosynostosis].Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.Central nervous system malformations and deformations in FGFR2-related craniosynostosis.Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.Intestinal malrotation in a patient with Pfeiffer syndrome type 2.Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromesRadiographic manifestations in Pfeiffer syndromeSyndromic craniosynostosisA rare case of Pfeiffer's syndromeUsing three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome
P2860
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P2860
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
description
1993 nî lūn-bûn
@nan
1993 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@ast
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@en
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@nl
type
label
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@ast
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@en
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@nl
prefLabel
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@ast
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@en
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@nl
P356
P1476
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
@en
P2093
P356
10.1002/AJMG.1320450305
P407
P577
1993-02-01T00:00:00Z