<p>(A) Three siblings presented with young onset diabetes and microcephaly with intellectual disability (black symbols); arrow shows the proband. Hatched symbols represent relatives with adult onset diabetes and the blue hatched symbol gestational diabetes. The double line indicates consanguinity. M/M denotes two mutant alleles, N/M one normal and one mutant allele. (B) A head MRI in the proband at age 26 years showed a small brain with normal architecture and normal gyration. (C) The radiograph of the hands showed normally shaped bones and absence of epiphyseal dysplasia.</p
Aim. The objective of this study was to describe the clinical characteristics of two siblings and th...
Whereas most people with diabetes mellitus have type 1 (T1DM) or type 2 (T2DM) diabetes, there are a...
Intrauterine exposure to diabetes is associated with an excess of diabetes and obesity in the offspr...
<p>With regard to the genetic status, NM denotes the presence of the heterozygous <i>KCNJ11</i> p.Gl...
<p>Squares represent male family members, circles female, and diamonds sex unknown. Numbers inside d...
<p>(N, Normal allele; M, mutation). Solid black-filled shapes represent patients with permanent neon...
<p>The inclusion criteria were: Diabetes+at least one of the following: A) maternal heritability of ...
This report adds 4 members in a kindred with diabetes insipidus, diabetes mellitus, and optic atroph...
A few rare syndromes have been delineated in which diabetes mellitus is inherited in association wit...
Here we report on a Portuguese family with three sisters who shared moderate intellectual disability...
The family histories of ^6 developmentally disabled patients are examined. Three hypotheses concerni...
Copyright © 2011 Siri Fredheim et al. This is an open access article distributed under the Creative ...
International audienceWe report on two siblings with hypotonia, ambiguous genitalia, microcephaly, p...
OBJECTIVE — To determine the distribution of the age at onset of diabetes (maturity-onset diabetes o...
Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsba...
Aim. The objective of this study was to describe the clinical characteristics of two siblings and th...
Whereas most people with diabetes mellitus have type 1 (T1DM) or type 2 (T2DM) diabetes, there are a...
Intrauterine exposure to diabetes is associated with an excess of diabetes and obesity in the offspr...
<p>With regard to the genetic status, NM denotes the presence of the heterozygous <i>KCNJ11</i> p.Gl...
<p>Squares represent male family members, circles female, and diamonds sex unknown. Numbers inside d...
<p>(N, Normal allele; M, mutation). Solid black-filled shapes represent patients with permanent neon...
<p>The inclusion criteria were: Diabetes+at least one of the following: A) maternal heritability of ...
This report adds 4 members in a kindred with diabetes insipidus, diabetes mellitus, and optic atroph...
A few rare syndromes have been delineated in which diabetes mellitus is inherited in association wit...
Here we report on a Portuguese family with three sisters who shared moderate intellectual disability...
The family histories of ^6 developmentally disabled patients are examined. Three hypotheses concerni...
Copyright © 2011 Siri Fredheim et al. This is an open access article distributed under the Creative ...
International audienceWe report on two siblings with hypotonia, ambiguous genitalia, microcephaly, p...
OBJECTIVE — To determine the distribution of the age at onset of diabetes (maturity-onset diabetes o...
Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsba...
Aim. The objective of this study was to describe the clinical characteristics of two siblings and th...
Whereas most people with diabetes mellitus have type 1 (T1DM) or type 2 (T2DM) diabetes, there are a...
Intrauterine exposure to diabetes is associated with an excess of diabetes and obesity in the offspr...