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Academic Journal

CATSHL syndrome, a new family and phenotypic expansion.

Subjects: Scoliosis*/Scoliosis*/Scoliosis*/genetics ; Hearing Loss*/Hearing Loss*/Hearing Loss*/genetics ; Bone Diseases, Developmental* CATSHL syndrome; Lacrimoauriculodentodigital syndrome

  • Source: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 313-316. Date of Electronic Publication: 2023 Nov 22.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Diagnosis and genetics of alacrima.

  • Authors : Adams J; Baylor College of Medicine, Interdepartmental Program of Developmental Biology, Houston, TX.; Schaaf CP

Subjects: Genetic Association Studies*/Genetic Association Studies*/Genetic Association Studies*/methods ; Genetic Predisposition to Disease*; Eye Diseases, Hereditary/Eye Diseases, Hereditary/Eye Diseases, Hereditary/*diagnosis Alacrima

  • Source: Clinical genetics [Clin Genet] 2018 Jul; Vol. 94 (1), pp. 54-60. Date of Electronic Publication: 2018 Feb 05.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Editorial & Opinion

Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa.

Subjects: Adrenal Insufficiency/Adrenal Insufficiency/Adrenal Insufficiency/*genetics ; Esophageal Achalasia/Esophageal Achalasia/Esophageal Achalasia/*genetics ; Lacrimal Apparatus Diseases/Lacrimal Apparatus Diseases/Lacrimal Apparatus Diseases/*genetics

  • Source: Clinical genetics [Clin Genet] 2008 Apr; Vol. 73 (4), pp. 385-7. Date of Electronic Publication: 2008 Feb 05.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.

  • Authors : Brooks BP; Office of the Scientific Director, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.; Kleta R

Subjects: Genetic Heterogeneity* ; Proteins*; Adrenal Insufficiency/Adrenal Insufficiency/Adrenal Insufficiency/*genetics

  • Source: Clinical genetics [Clin Genet] 2005 Sep; Vol. 68 (3), pp. 215-21.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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  • 1-4 of  4 results for ""LACRIMAL apparatus diseases""