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Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2
American journal of medical genetics. Part A, 2007-02, Vol.143A (3), p.219-228
Martinovic-Bouriel, Jelena
Bernabé-Dupont, Céline
Golzio, Christelle
Grattagliano-Bessières, Bettina
Malan, Valérie
Bonnière, Maryse
Esculpavit, Chantal
Fallet-Bianco, Catherine
Mirlesse, Véronique
Le Bidois, Jerôme
Aubry, Marie-Cécile
Vekemans, Michel
Morichon, Nicole
Etchevers, Heather
Attié-Bitach, Tania
Encha-Razavi, Féréchté
Benachi, Alexandra
2007
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Martinovic-Bouriel, Jelena
Bernabé-Dupont, Céline
Golzio, Christelle
Grattagliano-Bessières, Bettina
Malan, Valérie
Bonnière, Maryse
Esculpavit, Chantal
Fallet-Bianco, Catherine
Mirlesse, Véronique
Le Bidois, Jerôme
Aubry, Marie-Cécile
Vekemans, Michel
Morichon, Nicole
Etchevers, Heather
Attié-Bitach, Tania
Encha-Razavi, Féréchté
Benachi, Alexandra
Titel
Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2
Ist Teil von
American journal of medical genetics. Part A, 2007-02, Vol.143A (3), p.219-228
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2007
Quelle
MEDLINE
Beschreibungen/Notizen
We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew‐Wood syndrome (MWS; MIM 601186) or by the acronym “PMD” (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre‐ and perinatal diagnoses of Matthew‐Wood syndrome have been described to date. The cause is unknown, and the mode of transmission remains unclear. Most cases have been reported as isolated and sporadic, although recurrence among sibs has been observed once. Our two cases both occurred in consanguineous families, further supporting autosomal recessive transmission. In addition, in one family at least one of the elder sibs presented an evocatively similar phenotype. The spatiotemporal expression pattern of the FGF10 and FGFR2 genes in human embryos and the reported phenotypes of knockout mice for these genes spurred us to examine their coding sequences in our two cases of MWS. While in our patients, no causative sequence variations were identified in FGF10 or FGFR2, this cognate ligand‐receptor pair and its downstream effectors remain functional candidates for MWS and similar associations of congenital ocular, diaphragmatic and pulmonary malformations. © 2007 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.31599
Titel-ID: cdi_proquest_miscellaneous_68956982
Format
–
Schlagworte
Abnormalities, Multiple - diagnosis
,
Abnormalities, Multiple - genetics
,
Abnormalities, Multiple - pathology
,
Adult
,
Anophthalmos - diagnosis
,
Anophthalmos - genetics
,
association
,
Biological and medical sciences
,
Chromosome Disorders - diagnosis
,
Chromosome Disorders - pathology
,
congenital diaphragmatic defect
,
embryo
,
facial dysmorphy
,
Female
,
fibroblast growth factor
,
Fibroblast Growth Factor 10 - genetics
,
Genes, Recessive
,
growth retardation
,
Humans
,
Lung - abnormalities
,
Male
,
Malformations of the eye
,
Medical genetics
,
Medical sciences
,
microphthalmia
,
Microphthalmos - diagnosis
,
Microphthalmos - genetics
,
Ophthalmology
,
polymalformative syndrome
,
Pregnancy
,
Prenatal Diagnosis
,
pulmonary hypoplasia
,
Receptor, Fibroblast Growth Factor, Type 2 - genetics
,
Syndrome
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