Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred
about
sameAs
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7pTalocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanismCentury of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindredLinkage analysis in dominant acrocephalosyndactylyPitfalls of genetic counselling in Pfeiffer's syndromeVariable expression in Pfeiffer syndrome.A case of deletion 2q35----qter and a peculiar phenotype.Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.Actual concepts in scaphocephaly : (an experience of 98 cases).FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicingEvidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.Genetics of craniosynostosis: review of the literature.Autosomal dominant trigonocephaly.Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.An unusual type of acrocephalosyndactyly with bilateral parietooccipital "encephalocele," micropenis, and severe mental retardation.Jackson-Weiss syndrome.
P2860
Q24514974-B87BABB2-09B1-4FAB-9329-1074387FBF3DQ26860951-23D6D46D-E2B2-4CDF-8924-763D7D2D718AQ28188022-486D49D8-DD9C-4F3E-8791-1D6ECAFD2F85Q33588195-04C89E44-6BC9-4C18-95FA-1F4E888311DCQ33668077-14D4E664-B409-427C-99C1-3DDC531B1017Q33668492-08A4F9BF-F134-4692-8D26-43BFBB6CDF7CQ33671267-EB16DBD7-D75C-4CA3-827B-FB1E2E71BF7FQ33911968-F6C7F559-5528-469F-B91D-17FC1A75A7AFQ33947191-987BA290-E6D0-4B09-8436-C7FCF0771F1FQ35238921-A3194E43-1407-4D83-A011-05B4050FA421Q35581724-ED50A23A-6222-4852-A4EC-044BC6D7B293Q35881482-78BAA85F-5DE3-4E87-AB0E-FAA2F6401379Q35888956-613245A5-CE69-4704-B46A-0F261E76181FQ37312587-821E5863-C7EE-4A3A-8FB9-BBA8F9EDA20FQ41577248-4B9F0EB7-653F-41A1-92AA-6B55B8288DBDQ42950837-08929140-5DC3-441E-9143-C912B749A6DCQ47166239-75029092-82FB-4AF4-B6FA-ABD585E3FC73Q52057023-910951A7-FD27-4B85-A29B-51AE5C03FABFQ52135591-D55E437E-7380-471F-A258-9E450453DA21
P2860
Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred
description
1976 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1976 թվականի հունիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1976
@ast
im Juni 1976 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: June 1976)
@en
vedecký článok (publikovaný 1976-06)
@sk
vědecký článek publikovaný v roce 1976
@cs
wetenschappelijk artikel (gepubliceerd in 1976-06)
@nl
наукова стаття, опублікована в червні 1976
@uk
مقالة علمية (نشرت في يونيو 1976)
@ar
name
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@ast
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@en
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@nl
type
label
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@ast
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@en
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@nl
prefLabel
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@ast
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@en
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@nl
P2093
P1476
Craniosynostosis, midfacial hy ...... otype in a large Amish kindred
@en
P2093
C E Jackson
J A Peterson
T F Forman
W A Reynolds
P356
10.1016/S0022-3476(76)81050-5
P407
P577
1976-06-01T00:00:00Z