<p>The solid squares (male) and circles (female) represent affected patients. The proband of each family is indicated by a black arrow. Unaffected family members are represented by white icons. The slash symbol indicates deceased individuals. The doubled line indicates consanguineous marriage. The generation number is shown on the left.</p
<p>II:2, index patient and heterozygous carrier of the PRPF4 variant p.R192H. Arrows, individuals wh...
<p>A. The three-generation French family MTP1481 with adCSNB. Filled symbols indicate affected famil...
<p>Filled squares and circles represent the male and female patients, respectively. Closed squares a...
<p>Pedigrees of families ARRP01, ARRP02, ARRP03, ARRP04 and SU01 are demonstrated. Consanguineous ma...
<p>Filled symbols represent affected, unfilled unaffected. Question marks indicate that it is not cl...
<p>A) Pedigree for a family with the <i>PSEN1 A79V</i> mutation. B) Pedigree for a family with the <...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>Filled symbols for males (squares) and females (circles) represent affected individuals, and empt...
<p>The family history reveals 22 affected members in 4 generations. The dark symbols represent the a...
<p>Genetic analyses were performed on all individuals indicated by filled, divided and open symbols....
<p>The proband is marked with an arrow. Black symbols indicate clinically affected family members, o...
<p>This pedigree represents the family history of cancer in patient number 3. The proband, or origin...
<p>Circles and squares represent females and males, respectively. Clear symbols represent unaffected...
<p>Affected individuals are indicated with filled symbols and unaffected individuals are indicated w...
<p>Pedigree showing intractable diarrhea (green) and seizures (red) and other clinical phenotypes. A...
<p>II:2, index patient and heterozygous carrier of the PRPF4 variant p.R192H. Arrows, individuals wh...
<p>A. The three-generation French family MTP1481 with adCSNB. Filled symbols indicate affected famil...
<p>Filled squares and circles represent the male and female patients, respectively. Closed squares a...
<p>Pedigrees of families ARRP01, ARRP02, ARRP03, ARRP04 and SU01 are demonstrated. Consanguineous ma...
<p>Filled symbols represent affected, unfilled unaffected. Question marks indicate that it is not cl...
<p>A) Pedigree for a family with the <i>PSEN1 A79V</i> mutation. B) Pedigree for a family with the <...
<p>Below the individuals, genotypes are presented for either p.S1653KfsX2 (M1), p.L2784R (M2), p.Y29...
<p>Filled symbols for males (squares) and females (circles) represent affected individuals, and empt...
<p>The family history reveals 22 affected members in 4 generations. The dark symbols represent the a...
<p>Genetic analyses were performed on all individuals indicated by filled, divided and open symbols....
<p>The proband is marked with an arrow. Black symbols indicate clinically affected family members, o...
<p>This pedigree represents the family history of cancer in patient number 3. The proband, or origin...
<p>Circles and squares represent females and males, respectively. Clear symbols represent unaffected...
<p>Affected individuals are indicated with filled symbols and unaffected individuals are indicated w...
<p>Pedigree showing intractable diarrhea (green) and seizures (red) and other clinical phenotypes. A...
<p>II:2, index patient and heterozygous carrier of the PRPF4 variant p.R192H. Arrows, individuals wh...
<p>A. The three-generation French family MTP1481 with adCSNB. Filled symbols indicate affected famil...
<p>Filled squares and circles represent the male and female patients, respectively. Closed squares a...