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■ Abbreviation / Long Form : FMD / Frontometaphyseal dysplasia

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Total Number of Papers: 15
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Abbreviation:   FMD  (>> Co-occurring Abbreviation)
Long Form:   Frontometaphyseal dysplasia
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No. Year Title Co-occurring Abbreviation
2018 Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report. SCC, WGS, XP
2017 Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. AD-FMD, TAB2, TAK1
2017 Frontal cranioplasty in fronto-metaphyseal dysplasia. ---
2016 Fetal phenotypes in otopalatodigital spectrum disorders. MNS, OPDSD
2016 Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. TAB2, TGF-beta
2015 Frontometaphyseal dysplasia and keloid formation without FLNA mutations. ---
2014 Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). ---
2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. ---
2005 A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. FLNA, MNS, OPD1
10  2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. MNS, OPD1, PVNH
11  1997 Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia. ---
12  1995 Frontometaphyseal dysplasia: neonatal radiographic diagnosis. ---
13  1993 Restrictive chest bellows disease and frontometaphyseal dysplasia. ---
14  1986 Mitral valve prolapse in a patient with frontometaphyseal dysplasia. MVP
15  1980 Frontometaphyseal dysplasia: autosomal dominant or X-linked? ---