Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference21 articles.
1. A new X-linked dysplasia gigantism syndrome: Identical with the Simpson dysplasia syndrome?
2. A new X-linked dysplasia gigantism syndrome: Follow up in the first family and report on a second Austrian family
3. Simpson-Golabi-Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case
4. Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature
5. A new X-linked mental retardation-overgrowth syndrome
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1. International Guidelines for the Diagnosis and Management of Hyperinsulinism;Hormone Research in Paediatrics;2023-07-14
2. Prenatal diagnosis of Simpson–Golabi–Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold;Taiwanese Journal of Obstetrics and Gynecology;2023-01
3. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW ‐related prenatal findings;Prenatal Diagnosis;2022-07-19
4. Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease;Frontiers in Endocrinology;2022-07-07
5. Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review;BMC Pregnancy and Childbirth;2022-01-17
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