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Quoted phrase not found in phrase index: "Arthrogryposis-ectodermal dysplasia-other anomalies syndrome"
Page 1
Hypopituitarism in childhood.
Geffner ME. Geffner ME. Cancer Control. 2002 May-Jun;9(3):212-22. doi: 10.1177/107327480200900304. Cancer Control. 2002. PMID: 12060819 Free article. Review.
RESULTS: Children with congenital hypopituitarism may present with life-threatening hypoglycemia, abnormal serum sodium concentrations, shock, microphallus in males, and, only later, growth failure. Causes of congenital hypopituitarism include septo-optic dysplasia, oth …
RESULTS: Children with congenital hypopituitarism may present with life-threatening hypoglycemia, abnormal serum sodium concentrations, shoc …
Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.
Hicks J, Metry DW, Barrish J, Levy M. Hicks J, et al. Ultrastruct Pathol. 2001 Mar-Apr;25(2):99-103. Ultrastruct Pathol. 2001. PMID: 11407534 Review.
Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth enamel anomalies, oligodontia, and phalangoepiphyseal dysplasia. Other syndro …
Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/pigmentary dystrophy, juvenile catar …
THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME.
Bahsi T, Unal A, Bakir A, Perçin EF. Bahsi T, et al. Genet Couns. 2016;27(3):411-418. Genet Couns. 2016. PMID: 30204972
Wolcott-Rallison Syndrome (WRS), also known as Multiple Epiphyseal Dysplasia with Early-onset Diabetes Mellitus is a rare autosomal recessive multisystemic disorder. Its characteristic clinical features are permanent neonatal or early infancy insulin-dependent diabetes and …
Wolcott-Rallison Syndrome (WRS), also known as Multiple Epiphyseal Dysplasia with Early-onset Diabetes Mellitus is a rare autosomal r …