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Article

Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.

American journal of medical genetics. Part A - 15 Feb 2004

Albrecht Beate, Liebers Manuela, Kohlhase Jürgen

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Source

Identifiers

PMID: 14755477
DOI: 10.1002/ajmg.a.20484

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.PMID 14755477Read ↗

Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient.Semantic proximity Read ↗

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.Semantic proximity Read ↗

Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.Semantic proximity Read ↗

Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.Semantic proximity Read ↗

Intrafamilial phenotypic variability in Andersen–Tawil syndrome: A diagnostic challenge in a potentially treatable conditionSemantic proximity Read ↗

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.Semantic proximity Read ↗

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.Semantic proximity Read ↗

Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide.Semantic proximity Read ↗

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.Semantic proximity Read ↗

Three new alleles encoding an apparent Kellnull phenotype.Semantic proximity Read ↗

Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.Semantic proximity Read ↗

Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation.Semantic proximity Read ↗

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