All individuals with variants in gene EPHB4

60 entries on 1 page. Showing entries 1 - 60.
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00064039 - PubMed: Martin-Almedina 2016 - M no United Kingdom (Great Britain) - - - - - ? lymphatic-related non-immune hydrops fetalis 1 1 Pia Ostergaard
00064040 - PubMed: Martin-Almedina 2016 - F no Norway - - - - - ? autosomal dominant lymphatic-related hydrops fetalis 1 1 Pia Ostergaard
00305893 8 - - M - China - - - - - LMPHM - 1 1 Sha Hong
00404493 CM-13-HO-II-6A PubMed: Amyere 2017 5-generation family, 7 affected/ (4F, 3M) - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 7 Audrey Debue
00404494 CM-565-10 PubMed: Amyere 2017 family 3 affected/4 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 4 Audrey Debue
00404495 CM-415-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, Parkes Weber syndrome left arm 1 1 Audrey Debue
00404496 CM-184-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404497 CM-177-10 PubMed: Amyere 2017 isolated case - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404498 CM-219-10 PubMed: Amyere 2017 family 3 affected/4 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 4 Audrey Debue
00404499 CM-378-10 PubMed: Amyere 2017 family 2 affected/3 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 3 Audrey Debue
00404500 CM-348-10 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404501 CM-115-100 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, Parkes Weber syndrome left leg 1 1 Audrey Debue
00404502 CM-291-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404503 CM-568-10 PubMed: Amyere 2017 family 3 affected/3 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 3 Audrey Debue
00404504 CM-90-10 PubMed: Amyere 2017 5-generation family, 4 affected (F, 3M) - - - - - - - - ? capillary malformation, no arteriovenous malformation, Parkes Weber syndrome right leg 1 4 Audrey Debue
00404505 CM-302-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation right face, no Parkes Weber syndrome 1 1 Audrey Debue
00404506 CM-455-10 PubMed: Amyere 2017 2-generation family, affected father/daughter - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404507 CM-558-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404508 CM-546-2 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404509 CM-337-106 PubMed: Amyere 2017 3-generation family, 8 affected (4F, 4M) - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 8 Audrey Debue
00404510 CM-345-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404511 CM-391-100 PubMed: Amyere 2017 family 3 affected/3 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 3 Audrey Debue
00404512 CM-377-10 PubMed: Amyere 2017 family 4 affected/4 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 4 Audrey Debue
00404513 CM-120-10 PubMed: Amyere 2017 family 3 affected/4 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 4 Audrey Debue
00404514 CM-147-100 PubMed: Amyere 2017 family 1 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation left face and lip, no Parkes Weber syndrome 1 2 Audrey Debue
00404515 CM-162-100 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation left face, no Parkes Weber syndrome 1 1 Audrey Debue
00404516 CM-538-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404517 CM-487-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404518 CM-544-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404519 CM-470-10 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - ? capillary malformation, no arteriovenous malformation, Parkes Weber syndrome right arm 1 1 Audrey Debue
00404520 CM-323-10 PubMed: Amyere 2017 family 3 affected/3 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, Parkes Weber syndrome right leg 1 3 Audrey Debue
00404521 CM-131-101 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404522 CM-401-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404523 CM-224-11 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, Parkes Weber syndrome left arm 1 2 Audrey Debue
00404524 CM-239-10 PubMed: Amyere 2017 family 1 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation left face, no Parkes Weber syndrome 1 2 Audrey Debue
00404525 CM-298-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404526 CM-397-10 PubMed: Amyere 2017 family 3 affected/4 heterozygous carriers - - - - - - - - ? capillary malformation, vein of Galen aneurysmal malformation (2 affected), no Parkes Weber syndrome 1 4 Audrey Debue
00404527 CM-105-11 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation left arm, Parkes Weber syndrome right leg 1 2 Audrey Debue
00404528 CM-340-10 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404529 CM-459-10-1 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404530 CM-74-II-1 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404531 CM-297-2 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404532 CM-433-11 PubMed: Amyere 2017 family 4 affected/4 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, Parkes Weber syndrome right arm 1 4 Audrey Debue
00404533 CM-236-10 PubMed: Amyere 2017 family 1 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation left face, no Parkes Weber syndrome 1 2 Audrey Debue
00404534 CM-324-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404535 CM-488-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404536 CM-498-10 PubMed: Amyere 2017 family 3 affected/3 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 3 Audrey Debue
00404537 CM-373-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation left ear, no Parkes Weber syndrome 1 2 Audrey Debue
00404538 CM-407-2 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404539 CM-567-10 PubMed: Amyere 2017 family 3 affected/3 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation lips, no Parkes Weber syndrome 1 3 Audrey Debue
00404540 CM-490-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation D8-L1 perimedullar AVF, no Parkes Weber syndrome 1 1 Audrey Debue
00404541 CM-444-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404542 CM-282-10 PubMed: Amyere 2017 family 1 affected/1 heterozygous carriers - - - - - - - - ? capillary malformation, arteriovenous malformation face and upper lip, no Parkes Weber syndrome 1 1 Audrey Debue
00404543 CM-426-10 PubMed: Amyere 2017 isolated case - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404544 CM-110-101 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 1 Audrey Debue
00404545 CM-390-10 PubMed: Amyere 2017 family 2 affected/2 heterozygous carriers - - - - - - - - ? capillary malformation, no arteriovenous malformation, no Parkes Weber syndrome 1 2 Audrey Debue
00404546 CM-157-10 PubMed: Amyere 2017 family, 1 case analysed - - - - - - - - ? capillary malformation, arteriovenous malformation left face, no Parkes Weber syndrome 1 1 Audrey Debue
00405740 patient PubMed: Yu 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States white - - - - CMAVM see paper; ..., capillary malformation, infancy on left cheek, round and oval vascular macules and patches, most lesions peripheral blanched halo located on head, neck, trunk, and extremities; no palpable thrill, no bruit; no temperature discordance with surrounding skin; no musculoskeletal overgrowth 1 1 Johan den Dunnen
00464517 Pat3 Journal: Romano 2025 - - no Italy - - - - - VMCM Vein of Galen malformation 1 1 Ferruccio Romano
00464518 Pat10 Journal: Romano 2025 - - no Italy - - - - - VMCM - 1 1 Ferruccio Romano
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