Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion-Reference-Cited by-同舟云学术

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Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

Published:1992-01 Issue:1 Volume:12 Page:19-29
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

Bick David P.,Schorderet Daniel F.,Price Paul A.,Campbell Leslie,Huff Robert W.,Shapiro Larry J.,Moore Charleen M.

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference33 articles.

1. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

2. Disorders of Neuronal Migration

3. Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

4. Peroxisomal Enzyme Deficiency in X-linked Dominant Conradi—Hünermann Syndrome

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2. Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism;The Journal of Clinical Endocrinology & Metabolism;2022-05-16

3. Advances in Genetic Diagnosis of Kallmann Syndrome and Genetic Interruption;Reproductive Sciences;2021-07-06

4. Prenatal Diagnosis of Sex Chromosome Abnormalities;Genetic Disorders and the Fetus;2021-04-20

5. Receptor Transduction Pathways Mediating Hormone Action;Sperling Pediatric Endocrinology;2021

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