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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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Academic Journal

LADD syndrome is caused by FGF10 mutations.

  • Authors : Milunsky JM; Center for Human Genetics, Boston University School of Medicine, Boston, MA, USA. ; Zhao G

Subjects: Mutation*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Ear, External/Ear, External/Ear, External/*abnormalities

  • Source: Clinical genetics [Clin Genet] 2006 Apr; Vol. 69 (4), pp. 349-54.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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Academic Journal

Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies.

Subjects: Genes, Dominant* ; Phenotype*; Chromosome Aberrations/Chromosome Aberrations/Chromosome Aberrations/*genetics

  • Source: Clinical genetics [Clin Genet] 1990 Sep; Vol. 38 (3), pp. 228-32.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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Academic Journal

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.

Subjects: *IMMUNOGLOBULINS; *LACRIMAL apparatus

  • Source: Clinical Genetics. Dec2014, Vol. 86 Issue 6, p589-591. 3p. 1 Diagram, 1 Chart.

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Academic Journal

The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies.

Subjects: Abnormalities, Multiple* ; Foot Deformities, Congenital* ; Hand Deformities, Congenital*

  • Source: Clinical genetics [Clin Genet] 1973; Vol. 4 (5), pp. 369-75.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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  • 1-8 of  8 results for ""LACRIMAL apparatus diseases""