Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.

Smith, Marie S; Sarasua, Sara M; Rogers, Curtis; Phelan, Katy; Boccuto, Luigi

Smith, Marie S; Sarasua, Sara M; Rogers, Curtis; Phelan, Katy; Boccuto, Luigi.

Affiliation

Smith MS; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, South Carolina, USA.
Sarasua SM; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, South Carolina, USA.
Rogers C; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Phelan K; Genetics Laboratory, Florida Cancer Specialists & Research Institute, Fort Myers, Florida, USA.
Boccuto L; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, South Carolina, USA.

Clin Genet ; 104(4): 472-478, 2023 10.

Article in En | MEDLINE | ID: mdl-37232218

Subject(s)

Chromosome Disorders; Adolescent; Adult; Child; Humans; Cadherins/genetics; Chromosome Deletion; Chromosome Disorders/genetics; Chromosomes, Human, Pair 22; Nerve Tissue Proteins/genetics

Key words

22q13 deletion; CELSR1; Lymphedema; Phelan-McDermid syndrome; genotype-phenotype correlation

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Disorders Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Humans Language: En Journal: Clin Genet Year: 2023 Type: Article Affiliation country: United States

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