ArticleAmerican journal of human genetics1999
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 106 citations in OpenAlex.
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- Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.BMC medical genomics · 2022Article
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- Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.Molecular genetics & genomic medicine · 2019Article
- Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.Frontiers in pediatrics · 2015Article
- A mutation in TP63 causing a mild ectodermal dysplasia phenotype.The Journal of investigative dermatology · 2014Article
- Basal cell signaling by p63 controls luminal progenitor function and lactation via NRG1.Developmental cell · 2014Article
- Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1.European journal of human genetics : EJHG · 2010Article
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- Christ Siemens Touraine syndrome: a case report.Cases journal · 2009Article
- Concepts for the treatment of adolescent patients with missing permanent teeth.Oral and maxillofacial surgery · 2008Review
- Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome.The British journal of ophthalmology · 2006Article
- Splitting p63.American journal of human genetics · 2002Review
- The p63 gene in EEC and other syndromes.Journal of medical genetics · 2002Review
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a large Dutch family with a syndrome characterized by severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal-duct atresia, nail dysplasia, hypohydrosis, hypodontia, and cleft palate with or without bifid uvula. This combination of symptoms has not been reported previously, although there is overlap with the ulnar mammary syndrome (UMS) and with ectrodactyly, ectodermal dysplasia, and clefting syndrome. Allelism with UMS and other related syndromes was excluded by linkage studies with markers from the relevant chromosomal regions. A genomewide screening with polymorphic markers allowed the localization of the genetic defect to the subtelomeric region of chromosome 3q. Haplotype analysis reduced the critical region to a 3-cM interval of chromosome 3q27. This chromosomal segment has not been implicated previously in disorders with defective development of limbs and/or mammary tissue. Therefore, we propose to call this apparently new disorder "limb mammary syndrome" (LMS). The SOX2 gene at 3q27 might be considered an excellent candidate gene for LMS because the corresponding protein stimulates expression of FGF4, an important signaling molecule during limb outgrowth and development. However, no mutations were found in the SOX2 open reading frame, thus excluding its involvement in LMS.
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